ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.984C>T (p.Val328=)

gnomAD frequency: 0.00004  dbSNP: rs782409511
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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 RCV000193208 SCV000247553 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003638642 SCV004461427 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-07-28 criteria provided, single submitter clinical testing

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