ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)

gnomAD frequency: 0.00009  dbSNP: rs375755315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608374 SCV000725524 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000608374 SCV002068995 likely benign not specified 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528553 SCV003294058 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-04 criteria provided, single submitter clinical testing

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