ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.6C>G (p.Ser2=)

gnomAD frequency: 0.00002  dbSNP: rs982258436
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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 RCV001476077 SCV001680281 likely benign Fanconi anemia 2023-08-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001476077 SCV002535069 likely benign Fanconi anemia 2021-10-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503120 SCV002807953 likely benign Fanconi anemia complementation group A 2021-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV005338487 SCV006001920 likely benign Inborn genetic diseases 2025-02-09 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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