ClinVar Miner

Variants in gene combination HBB, LOC106099062, LOC107133510

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign protective other not provided total
280 75 169 213 24 3 249 36 783

Condition and significance breakdown #

Total conditions: 324
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective other not provided total
not provided 119 33 120 194 15 0 0 0 436
beta Thalassemia 201 33 41 14 11 0 0 33 270
not specified 15 1 66 41 5 0 0 0 120
Beta zero thalassemia 43 0 0 0 0 0 0 0 43
Hemoglobinopathy 29 7 0 0 0 0 0 0 36
Hb SS disease 27 0 8 0 2 0 0 3 35
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 20 1 6 2 1 0 0 0 30
Beta-plus-thalassemia 29 0 0 0 0 0 0 0 29
Beta-thalassemia HBB/LCRB 18 3 2 0 1 0 0 0 24
Inborn genetic diseases 15 0 0 6 1 0 0 0 22
Erythrocytosis, familial, 6 20 0 0 0 0 0 0 0 20
HBB-related condition 11 0 2 5 0 0 0 0 18
Fetal hemoglobin quantitative trait locus 1 4 0 8 0 1 0 0 0 13
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6 8 2 0 0 0 0 0 0 10
Hemoglobin E 0 0 7 0 2 0 1 0 10
Heinz body anemia 9 0 0 0 0 0 0 0 9
Beta thalassemia intermedia 7 1 0 0 0 0 0 0 8
Dominant beta-thalassemia 3 3 1 0 0 0 0 0 7
Beta-thalassemia major 5 0 0 0 0 0 0 0 5
HBB-Related Disorders 4 0 0 0 0 0 0 1 4
Malaria, resistance to 0 0 0 0 0 3 0 0 3
Malaria, susceptibility to 2 1 0 0 0 0 0 0 3
Anemia 2 0 0 0 0 0 0 0 2
HEMOGLOBIN ZIGUINCHOR 0 0 0 0 0 0 2 0 2
Hemolytic anemia 2 0 0 0 0 0 0 0 2
Hereditary persistence of fetal hemoglobin 2 0 0 0 0 0 0 0 2
Methemoglobinemia, beta-globin type 2 0 0 0 0 0 0 0 2
Sickle cell-hemoglobin C disease 2 0 0 0 0 0 0 0 2
Atypical hemolytic-uremic syndrome 0 1 0 0 0 0 0 0 1
Beta-Knossos-thalassemia 1 0 0 0 0 0 0 0 1
Beta-Malay-thalassemia 1 0 0 0 0 0 0 0 1
Beta-thalassemia, Ashkenazi Jewish type 1 0 0 0 0 0 0 0 1
Beta-thalassemia, lermontov type 1 0 0 0 0 0 0 0 1
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 0 0 0 0 0 0 0 1 1
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; beta Thalassemia 1 0 0 0 0 0 0 0 1
Erythrocytosis 1 0 0 0 0 0 0 0 1
HEMOGLOBIN AALBORG 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ABRAHAM LINCOLN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN AGENOGI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ALABAMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ALAMO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ALESHA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ANKARA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ANTALYA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ARLINGTON PARK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ARTA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ATHENS-GEORGIA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ATLANTA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ATLANTA-COVENTRY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN AUBAGNE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN AUSTIN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN AVICENNA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BAB-SAADOUN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BADEN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BARCELONA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BAYLOR 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BELFAST 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BICETRE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BOLOGNA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BORAS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BREM-SUR-MER 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BRIE COMTE ROBERT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BRISBANE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BRISTOL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BUNBURY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN BUSHWICK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN C 1 0 0 0 0 0 0 0 1
HEMOGLOBIN CAGLIARI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CALAIS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CARDARELLI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CARIBBEAN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CASTILLA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHANDIGARH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHEMILLY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHESTERFIELD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHEVERLY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHIBA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHICO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHILE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CHRISTCHURCH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CITY OF HOPE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN COCODY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN COIMBRA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN COLIMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN COLLINGWOOD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CONNECTICUT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN COSTA RICA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN CRETEIL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN D (BUSHMAN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN D (GRANADA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN D (IBADAN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN D (IRAN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN D (OULED RABAH) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DEBROUSSE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DEER LODGE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DENVER 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DETROIT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DJELFA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DOHA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DRENTHE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN DUARTE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN E (SASKATOON) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN EDMONTON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN FUKUOKA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN FUKUYAMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (ACCRA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (COPENHAGEN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (COUSHATTA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (FERRARA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (GALVESTON) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (HSI-TSOU) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (HSIN-CHU) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (MAKASSAR) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (PORT ARTHUR) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SAN JOSE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SASKATOON) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SZUHU) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAEGU) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAIPEI) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAIWAN-AMI) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TEXAS) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GAINESVILLE-GA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GALICIA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GAVELLO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GELDROP ST. ANNA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GENOVA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GIFU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GRANGE-BLANCHE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GRAZ 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GREAT LAKES 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GRENOBLE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN GUN HILL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HAKKARI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMADAN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMILTON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMMERSMITH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HANA 1 0 0 0 0 0 0 0 1
HEMOGLOBIN HAZEBROUCK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HELSINKI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HENRI MONDOR 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HIGASHITOCHIGI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HIKARI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HINWIL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HIROSE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HOKUSETSU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HOPKINS 1 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HOTEL-DIEU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HOWICK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN HYOGO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN I (HIGH WYCOMBE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ILMENAU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN IRAQ-HALABJA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ALTGELD GARDENS) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (AMIENS) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (ANTAKYA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (AUCKLAND) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BALTIMORE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BARI) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CAIRO) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CALABRIA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CHICAGO) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (CORDOBA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (COSENZA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (DALOA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (EUROPA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (IRAN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (LENS) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (LOME) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (LUHE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN J (SICILIA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN JACKSONVILLE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN JAMAICA PLAIN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN JENKINS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN K (IBADAN) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KARLSKOGA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KEMPSEY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KENITRA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KENWOOD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KNOSSOS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KOBE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KOFU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KOREA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN KORLE-BU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LA CORUNA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LA ROCHE-SUR-YON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LAS PALMAS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LEIDEN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LIMASSOL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LINKOPING 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LUCKNOW 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LUFKIN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN LYON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN M (AKITA) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN M (HYDE PARK) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN M (MILWAUKEE 1) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN M (MILWAUKEE 2) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE 1 0 0 0 0 0 0 0 1
HEMOGLOBIN M (SASKATOON) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MACHIDA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MALAY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MALMO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MANUKAU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MAPUTO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MARINEO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MATERA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MEDICINE LAKE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MEILAHTI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MEQUON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MIYASHIRO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MIZUHO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MOBILE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MONTREAL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MORIGUCHI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MOSCVA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MOZHAISK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MUSCAT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN MUSKEGON 0 0 0 0 0 0 1 0 1
HEMOGLOBIN N (BALTIMORE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN N (JENKINS) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN N (SEATTLE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN N (TIMONE) 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NAGASAKI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NAGOYA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NAKANO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NEWCASTLE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NIKOSIA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NITEROI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NORTH CHICAGO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN NOTTINGHAM 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OCHO RIOS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OKALOOSA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OKAYAMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OKAZAKI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OLOMOUC 0 0 0 0 0 0 1 0 1
HEMOGLOBIN OLYMPIA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PALMERSTON NORTH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PASADENA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PERTH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PHILLY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PIERRE-BENITE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN POCOS DE CALDAS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN POISSY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PORTO ALEGRE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PROVIDENCE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN PYRGOS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN QUIN-HAI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RADCLIFFE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RAHERE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RALEIGH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RANDWICK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN REGINA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RIO CLARO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RIO GRANDE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN RIVERDALE-BRONX 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ROCKFORD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ROSEAU-POINTE A PITRE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ROTHSCHILD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN S 0 0 0 0 0 0 1 0 1
HEMOGLOBIN S (ANTILLES) 1 0 0 0 0 0 0 0 1
HEMOGLOBIN S (CAMEROON) 1 0 0 0 0 0 0 0 1
HEMOGLOBIN S (PROVIDENCE) 1 0 0 0 0 0 0 0 1
HEMOGLOBIN SAALE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SABINE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SAINT ETIENNE 1 0 0 0 0 0 0 0 1
HEMOGLOBIN SAKI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SANTA ANA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SANTA CLARA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SANTANDER 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SAVANNAH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SEATTLE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SHEPHERDS BUSH 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SOGN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SOUTH FLORIDA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. ANTOINE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. LOUIS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN STRASBOURG 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SUMMER HILL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SUNNYBROOK 0 0 0 0 0 0 1 0 1
HEMOGLOBIN SYDNEY 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TA-LI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TAMPA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TIANSHUI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TIGRAYE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TILBURG 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TIZI-OUZOU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TOCHIGI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TOURS 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TRIPOLI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TROLLHAETTAN 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TSURUMAI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN TYNE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VAASA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VALLETTA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VANCOUVER 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VANDERBILT 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VICKSBURG 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VILA REAL 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VILLAVERDE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN VOLGA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WARWICKSHIRE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WASHTENAW 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WATFORD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WILLAMETTE 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WINDSOR 0 0 0 0 0 0 1 0 1
HEMOGLOBIN WOOD 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YAIZU 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YAKIMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YATSUSHIRO 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YOKOHAMA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YPSILANTI 0 0 0 0 0 0 1 0 1
HEMOGLOBIN YUSA 0 0 0 0 0 0 1 0 1
HEMOGLOBIN ZOETERWOUDE 0 0 0 0 0 0 1 0 1
Hb aubenas 1 0 0 0 0 0 0 0 1
Hb gambara 1 0 0 0 0 0 0 0 1
Hb niigata 1 0 0 0 0 0 0 0 1
Hemoglobin E disease 1 0 0 0 0 0 0 0 1
Hemoglobin E/beta thalassemia disease 1 0 0 0 0 0 0 0 1
Hemoglobin Zurich 0 0 0 0 0 0 1 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 0 0 1
Sickle cell disease and related diseases 1 0 0 0 0 0 0 0 1
Thalassemia 0 0 1 0 0 0 0 0 1
alpha Thalassemia 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective other not provided total
OMIM 125 0 0 0 4 3 249 0 351
Invitae 72 6 4 164 8 0 0 0 254
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 88 18 76 36 0 0 0 0 218
Quest Diagnostics Nichols Institute San Juan Capistrano 81 13 87 21 1 0 0 0 203
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 185 0 0 0 7 0 0 0 192
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 74 11 27 32 6 0 0 0 150
Natera, Inc. 64 3 29 9 1 0 0 0 106
Fulgent Genetics, Fulgent Genetics 27 3 6 2 1 0 0 0 39
GeneDx 26 2 6 0 4 0 0 0 38
GeneReviews 0 0 0 0 0 0 0 35 35
Revvity Omics, Revvity 18 5 7 0 0 0 0 0 30
Counsyl 14 14 1 0 0 0 0 0 29
Baylor Genetics 27 0 1 0 0 0 0 0 28
Ambry Genetics 15 0 0 6 1 0 0 0 22
PreventionGenetics, part of Exact Sciences 11 0 2 7 1 0 0 0 21
Myriad Genetics, Inc. 16 5 0 0 0 0 0 0 21
Clinical Genetics and Genomics, Karolinska University Hospital 18 1 0 0 0 0 0 0 19
Illumina Laboratory Services, Illumina 6 1 8 0 2 0 0 0 15
MGZ Medical Genetics Center 11 0 1 0 0 0 0 0 12
Mendelics 7 0 1 0 4 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 9 0 3 0 0 0 0 0 12
CeGaT Center for Human Genetics Tuebingen 9 2 0 1 0 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 8 3 1 0 0 0 0 0 12
Genome-Nilou Lab 10 0 1 0 1 0 0 0 12
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 5 1 0 5 0 0 0 0 11
3billion 9 2 0 0 0 0 0 0 11
Eurofins Ntd Llc (ga) 7 1 0 0 1 0 0 0 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 9 0 0 0 0 0 0 0 9
Lifecell International Pvt. Ltd 6 0 0 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 4 0 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 0 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 0 0 0 4
College of Science, Al Muthanna University, Al Muthanna University 3 0 0 0 1 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 4 0 0 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 0 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 0 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 1 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 1 0 1 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 3 0 0 0 0 0 0 0 3
New York Genome Center 3 0 0 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 2 1 0 0 0 0 0 0 3
DASA 3 0 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 0 0 0 2
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 2 0 0 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 2 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Pediatric Molecular Hematology, Schneider Children's Medical Center of Israel 1 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Bodamer Research Lab, Boston Children's Hospital 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 0 1
Genetics Service Unit, National Institute of Biomedical Genomics 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province 0 0 0 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Department of Pathology, Krishna Institute of Medical Sciences “Deemed To Be University”, Karad 1 0 0 0 0 0 0 0 1
H3Africa Consortium 1 0 0 0 0 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 1

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