ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1530C>T (p.Gly510=)

gnomAD frequency: 0.00001  dbSNP: rs367951081
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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 RCV000960356 SCV001107325 likely benign Fanconi anemia 2023-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489350 SCV002795466 likely benign Spermatogenic failure 28; Premature ovarian failure 15 2021-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973205 SCV005580770 likely benign Inborn genetic diseases 2024-10-15 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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