ClinVar Miner

Variants with conflicting interpretations "benign" from Michigan Medical Genetics Laboratories, University of Michigan and "likely benign" from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Minimum review status of the submission from Michigan Medical Genetics Laboratories, University of Michigan: Collection method of the submission from Michigan Medical Genetics Laboratories, University of Michigan:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_007294.4(BRCA1):c.3774G>A (p.Glu1258=) rs431825399 0.00001

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