ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1161C>T (p.Cys387=)

gnomAD frequency: 0.00002  dbSNP: rs548998258
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253445 SCV000302516 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705330 SCV000524801 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24951259)
Invitae RCV000473343 SCV000560627 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000988204 SCV001137841 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010048 SCV001170191 likely benign Hereditary cancer-predisposing syndrome 2019-05-13 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316340 SCV004017621 likely benign Fanconi anemia complementation group C 2023-07-07 criteria provided, single submitter clinical testing

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