ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1602C>T (p.Asp534=)

gnomAD frequency: 0.00003  dbSNP: rs201951080
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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 RCV001433127 SCV001635911 likely benign Fanconi anemia 2023-06-16 criteria provided, single submitter clinical testing
GeneDx RCV001558992 SCV001781045 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980476 SCV005586866 likely benign Inborn genetic diseases 2024-11-23 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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