ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)

gnomAD frequency: 0.00008  dbSNP: rs781840891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501063 SCV000595107 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524197 SCV001048600 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-21 criteria provided, single submitter clinical testing

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