ClinVar Miner

Variants from Bioinformatics dept.,Datar Cancer Genetics Limited, India

Location: India — 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
20 4 1 0 0 25

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA1 11 0 0 11
BRCA2 5 0 0 5
PER3 2 0 0 2
FGFR3 1 0 0 1
GATA3 1 0 0 1
KCNQ1 0 1 0 1
MYBPC3 0 1 0 1
SHH 0 0 1 1
SLC4A1 0 1 0 1
SPTA1 0 1 0 1

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance total
Breast-ovarian cancer, familial 1 9 0 0 9
Breast-ovarian cancer, familial 2 5 0 0 5
Advanced sleep phase syndrome, familial, 3 2 0 0 2
Bladder cancer, somatic 1 0 0 1
Elliptocytosis 2 0 1 0 1
Familial cancer of breast 1 0 0 1
Holoprosencephaly 3 0 0 1 1
Left ventricular noncompaction 10 0 1 0 1
Long QT syndrome 1 0 1 0 1
Porokeratosis punctata palmaris et plantaris 1 0 0 1
Pseudohyperkalemia Cardiff 0 1 0 1
Stage 5 chronic kidney disease 1 0 0 1

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