ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1200C>T (p.Phe400=)

dbSNP: rs767215159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229080 SCV000283582 likely benign Fanconi anemia 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347858 SCV002647900 likely benign Hereditary cancer-predisposing syndrome 2021-03-06 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001273991 SCV004017615 likely benign Fanconi anemia complementation group C 2023-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273991 SCV001457652 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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