ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.147C>G (p.Arg49=)

dbSNP: rs762962148
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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 RCV001392550 SCV001594194 likely benign Fanconi anemia 2023-12-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704520 SCV005215884 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004980413 SCV005586475 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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