ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1290C>T (p.Tyr430=)

gnomAD frequency: 0.00011  dbSNP: rs766105286
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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 RCV000206783 SCV000261080 likely benign Fanconi anemia 2024-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000429828 SCV000518714 benign not specified 2015-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV001010786 SCV001171030 likely benign Hereditary cancer-predisposing syndrome 2017-12-01 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. RCV000206783 SCV002081166 likely benign Fanconi anemia 2018-06-05 no assertion criteria provided clinical testing

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