ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.516A>G (p.Thr172=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004974832 SCV005587028 likely benign Inborn genetic diseases 2024-12-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110252 SCV005727734 likely benign Fanconi anemia 2024-02-27 criteria provided, single submitter clinical testing

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