ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.957G>A (p.Thr319=)

gnomAD frequency: 0.00001  dbSNP: rs1060504647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457234 SCV000560622 likely benign Fanconi anemia 2023-09-18 criteria provided, single submitter clinical testing
GeneDx RCV001721536 SCV000715575 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019507 SCV001180875 likely benign Hereditary cancer-predisposing syndrome 2017-01-18 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.
Natera, Inc. RCV001274466 SCV001458689 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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