ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2616C>T (p.His872=)

gnomAD frequency: 0.00001  dbSNP: rs372803974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478082 SCV001682339 likely benign Fanconi anemia 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992412 SCV004811730 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing FANCM: BP4, BP7
Ambry Genetics RCV004973084 SCV005586991 likely benign Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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