ClinVar Miner

Variants from GeneID Lab - Advanced Molecular Diagnostics

Location: United States — Primary collection method: clinical testing
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 total
0 18 5 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination likely pathogenic uncertain significance total
GJB6 2 0 2
NBN 0 2 2
PCDH15 2 0 2
USH2A 2 0 2
AKAP9 1 0 1
BRIP1 0 1 1
CA12 1 0 1
CDH1 1 0 1
CHEK2 1 0 1
ELP1 1 0 1
GBE1 1 0 1
GJB3 1 0 1
LOC102723833, USH2A 1 0 1
MSH6 0 1 1
MUTYH 0 1 1
MYO7A 1 0 1
PAH 1 0 1
SCNN1B 1 0 1
TGFBR2 1 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition likely pathogenic uncertain significance total
Hereditary cancer-predisposing syndrome 1 4 5
Nonsyndromic hearing loss 3 0 3
Usher syndrome, type 2A 3 0 3
Familial dysautonomia 1 0 1
Glycogen storage disease, type IV 1 0 1
Hereditary diffuse gastric cancer 1 0 1
Hyperchlorhidrosis, isolated 1 0 1
Loeys-Dietz syndrome 1 0 1
Long QT syndrome 1 0 1
Low renin, low aldosterone hypertension 1 0 1
Lynch syndrome 0 1 1
Nonsyndromic Deafness 1 0 1
Phenylketonuria 1 0 1
Usher syndrome 1 0 1
Usher syndrome, type 1B 1 0 1
Usher syndrome, type 1F 1 0 1

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