ClinVar Miner

Variants from GeneID Lab - Advanced Molecular Diagnostics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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 total
3 39 5 0 0 47

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MSH6 0 2 1 3
NBN 0 1 2 3
USH2A 0 3 0 3
BCKDHB 0 2 0 2
CDH23 0 2 0 2
GBA1, LOC106627981 1 1 0 2
GJB6 0 2 0 2
HEXA 1 1 0 2
MYO7A 0 2 0 2
PCDH15 0 2 0 2
RECQL4 0 2 0 2
AKAP9 0 1 0 1
BLM 0 1 0 1
BRCA2 0 1 0 1
BRIP1 0 0 1 1
CA12 0 1 0 1
CDH1 0 1 0 1
CHEK2 0 1 0 1
COL4A1 0 1 0 1
ELAC2 1 0 0 1
ELP1 0 1 0 1
FANCA 0 1 0 1
GBE1 0 1 0 1
GJB2 0 1 0 1
GJB3 0 1 0 1
MUTYH 0 0 1 1
PAH 0 1 0 1
PALB2 0 1 0 1
PTCH1 0 1 0 1
RAD50 0 1 0 1
SCN5A 0 1 0 1
SCNN1B 0 1 0 1
TGFBR2 0 1 0 1

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance total
Hereditary cancer-predisposing syndrome 0 3 4 7
Nonsyndromic Deafness 0 4 0 4
Lynch syndrome 0 2 1 3
Usher syndrome type 2A 0 3 0 3
Baller-Gerold syndrome 0 2 0 2
Gaucher disease 1 1 0 2
Maple syrup urine disease 0 2 0 2
Tay-Sachs disease 1 1 0 2
Usher syndrome type 1D 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 1A 0 1 0 1
Bloom syndrome 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Brugada syndrome 0 1 0 1
Combined oxidative phosphorylation defect type 17 1 0 0 1
Familial dysautonomia 0 1 0 1
Fanconi anemia complementation group A 0 1 0 1
Glycogen storage disease, type IV 0 1 0 1
Gorlin syndrome 0 1 0 1
Hereditary breast ovarian cancer syndrome 0 1 0 1
Hereditary diffuse gastric adenocarcinoma 0 1 0 1
Isolated hyperchlorhidrosis 0 1 0 1
Loeys-Dietz syndrome 0 1 0 1
Long QT syndrome 0 1 0 1
Low renin, low aldosterone hypertension 0 1 0 1
Microcephaly, normal intelligence and immunodeficiency 0 1 0 1
Phenylketonuria 0 1 0 1
Usher syndrome 0 1 0 1
Usher syndrome type 1 0 1 0 1
Usher syndrome type 1B 0 1 0 1
Usher syndrome type 1F 0 1 0 1

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