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
271 55 111 72 22 3 243 1 609

Condition and significance breakdown #

Total conditions: 307
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective other not provided total
beta Thalassemia 201 28 22 6 11 0 0 0 240
not provided 88 19 70 40 7 0 0 0 213
not specified 20 2 43 38 6 0 0 0 100
none provided 46 2 8 11 5 0 0 0 72
beta^0^ Thalassemia 43 0 0 0 0 0 0 0 43
Hb SS disease 28 0 7 0 2 0 0 0 35
Hemoglobinopathy 28 6 0 0 0 0 0 0 34
Beta-plus-thalassemia 25 0 0 0 0 0 0 0 25
Erythrocytosis 6, familial 20 0 0 0 0 0 0 0 20
Fetal hemoglobin quantitative trait locus 1 4 0 8 1 1 0 0 0 13
Hemoglobin E 0 0 7 1 2 0 1 0 11
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis 6, familial 8 1 0 0 0 0 0 0 9
Beta thalassemia intermedia 4 1 0 0 0 0 0 0 5
Heinz body anemia 5 0 0 0 0 0 0 0 5
Beta thalassemia major 3 0 0 0 0 0 0 0 3
Malaria, resistance to 0 0 0 0 0 3 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
Inborn genetic diseases 2 0 0 0 0 0 0 0 2
Methemoglobinemia, beta-globin type 2 0 0 0 0 0 0 0 2
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, dominant inclusion body type 0 1 0 0 0 0 0 0 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Hb SS disease; beta Thalassemia 0 0 0 0 0 0 0 1 1
Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; Susceptibility to malaria; beta Thalassemia 1 0 0 0 0 0 0 0 1
Beta-thalassemia, lermontov type 1 0 0 0 0 0 0 0 1
Erythrocytosis 1 0 0 0 0 0 0 0 1
HBB-Related Disorders 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 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 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 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 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 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 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 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
Sickle cell disease and related diseases 1 0 0 0 0 0 0 0 1
alpha Thalassemia 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective other not provided total
OMIM 118 0 0 0 4 3 243 0 338
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 184 0 0 0 7 0 0 0 191
Integrated Genetics/Laboratory Corporation of America 76 16 46 29 0 0 0 0 167
Quest Diagnostics Nichols Institute San Juan Capistrano 63 11 61 15 0 0 0 0 150
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 65 6 21 24 6 0 0 0 122
Invitae 48 6 0 29 7 0 0 0 90
GeneReviews 33 0 0 0 0 0 0 0 33
Counsyl 14 14 1 0 0 0 0 0 29
Baylor Genetics 28 0 0 0 0 0 0 0 28
Myriad Women's Health, Inc. 16 5 0 0 0 0 0 0 21
Natera, Inc. 7 1 8 3 0 0 0 0 19
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 18 1 0 0 0 0 0 0 19
Illumina Clinical Services Laboratory,Illumina 4 1 9 1 2 0 0 0 14
GeneDx 11 0 0 0 0 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 1 0 0 1 0 0 0 9
Fulgent Genetics,Fulgent Genetics 8 1 0 0 0 0 0 0 9
Mendelics 4 0 1 0 3 0 0 0 8
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
PreventionGenetics, PreventionGenetics 0 0 0 2 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 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,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 0 2
Ambry Genetics 2 0 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 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
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 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
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 0 0 1
Genetic Services Unit,National Institute of Biomedical Genomics 1 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Nilou-Genome Lab 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

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