ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1473A>G (p.Lys491=)

gnomAD frequency: 0.00001  dbSNP: rs769921972
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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 RCV001391819 SCV001593450 likely benign Fanconi anemia 2023-12-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145656 SCV003833920 uncertain significance Fanconi anemia complementation group G 2019-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV005340861 SCV006000439 likely benign Inborn genetic diseases 2024-12-22 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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