ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.336C>T (p.Ser112=)

dbSNP: rs1057521125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720108 SCV000521145 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450986 SCV002614287 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766236 SCV004654804 likely benign Fanconi anemia 2023-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276464 SCV001462835 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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