ClinVar Miner

Variants from Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH

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
2 7 20 5 0 34

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TTN 0 0 6 2 8
BRCA2 0 1 1 0 2
KMT2C 0 0 2 0 2
PKD1 0 2 0 0 2
SBF1 0 0 1 1 2
AIP 0 0 1 0 1
ALS2 0 0 1 0 1
AR 0 1 0 0 1
ATM 0 0 1 0 1
ATXN1 0 0 1 0 1
CASR 0 0 1 0 1
CDKN2B 0 0 1 0 1
DHTKD1 0 0 1 0 1
EGR2 0 1 0 0 1
GCK 1 0 0 0 1
GP1BA 0 1 0 0 1
HNF4A 0 1 0 0 1
IQSEC2 0 0 0 1 1
LOC130060903, NAGLU 0 0 1 0 1
PYGM 0 0 0 1 1
SBF2 0 0 1 0 1
SERPINA1 1 0 0 0 1
ZFYVE26 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 0 1 19 3 23
Maturity onset diabetes mellitus in young 1 1 0 0 2
Polycystic kidney disease, adult (ADPKD) 0 2 0 0 2
not specified 0 0 0 2 2
Alpha-1-antitrypsin deficiency 1 0 0 0 1
Androgen resistance syndrome 0 1 0 0 1
Bernard-Soulier syndrome, type A1 0 1 0 0 1
Malignant tumor of breast 0 1 0 0 1
Pituitary adenoma predisposition 0 0 1 0 1

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