ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)

gnomAD frequency: 0.00001  dbSNP: rs764040527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425146 SCV001627763 likely benign Fanconi anemia 2024-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488238 SCV002804153 likely benign Spermatogenic failure 28; Premature ovarian failure 15 2022-04-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478826 SCV004218788 likely benign not provided 2022-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980465 SCV005586993 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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