ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)

gnomAD frequency: 0.00001  dbSNP: rs776001484
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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 RCV001468852 SCV001672919 likely benign Fanconi anemia 2022-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502719 SCV002810084 likely benign Fanconi anemia complementation group A 2022-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV005338453 SCV006001705 likely benign Inborn genetic diseases 2025-01-14 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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