ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1530C>T (p.Thr510=)

gnomAD frequency: 0.00001  dbSNP: rs372199352
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464009 SCV000560617 likely benign Fanconi anemia 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563695 SCV000673313 likely benign Hereditary cancer-predisposing syndrome 2017-05-12 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.
GeneDx RCV001613308 SCV001838434 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000464009 SCV002535096 likely benign Fanconi anemia 2021-04-01 criteria provided, single submitter curation
Natera, Inc. RCV000464009 SCV002081137 likely benign Fanconi anemia 2020-11-10 no assertion criteria provided clinical testing

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