ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1251C>T (p.Val417=)

dbSNP: rs1557116313
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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 RCV000504035 SCV000595106 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766821 SCV004694660 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-02-12 criteria provided, single submitter clinical testing

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