ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)

gnomAD frequency: 0.00009  dbSNP: rs199554411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698190 SCV000531655 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Invitae RCV000885849 SCV001029322 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522497 SCV003697504 likely benign Inborn genetic diseases 2022-10-26 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.

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