ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)

gnomAD frequency: 0.00001  dbSNP: rs758842354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875725 SCV001018193 likely benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399959 SCV002706812 likely benign Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003930427 SCV004749313 likely benign FANCC-related condition 2022-10-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001271436 SCV001452567 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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