ClinVar Miner

Variants from MVZ Praenatalmedizin und Genetik Nuernberg

Location: Germany  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
11 10 9 4 0 34

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRCA2 3 0 3 0 6
ATM, C11orf65 0 3 1 0 4
BRCA1 1 1 1 1 4
COL2A1 1 0 0 2 3
MSH6 1 2 0 0 3
PALB2 0 1 2 0 3
BRCA1, LOC126862571 1 0 1 0 2
BRIP1 2 0 0 0 2
AKT3 0 1 0 0 1
CDH1 0 0 1 0 1
CHD7 1 0 0 0 1
L1CAM 0 1 0 0 1
RAD51C 0 0 0 1 1
RIT1 1 0 0 0 1
TUBA1A 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Familial cancer of breast 2 4 2 1 9
Breast-ovarian cancer, familial, susceptibility to, 1 2 1 2 1 6
Breast-ovarian cancer, familial, susceptibility to, 2 3 0 3 0 6
Lynch syndrome 5 1 1 0 0 2
Achondrogenesis type II 0 0 0 1 1
CHARGE association 1 0 0 0 1
CUP (carcinoma unknown primary) syndrome 0 0 1 0 1
Endometrial carcinoma; Lynch syndrome 5 0 1 0 0 1
Lissencephaly 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 0 1
Neoplasm of ovary 0 0 1 0 1
Noonan syndrome 8 1 0 0 0 1
Spondyloepiphyseal dysplasia congenita 1 0 0 0 1
Stickler syndrome type 1 0 0 0 1 1
X-linked hydrocephalus syndrome 0 1 0 0 1

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