ClinVar Miner

Variants studied for SRD5A3-CDG

Included ClinVar conditions (1):
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
6 0 3 1 1 11

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SRD5A3 6 3 1 1 11

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign total
OMIM 5 0 0 0 5
Invitae 0 1 1 1 3
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 1

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