ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922791 SCV003263572 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-03-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002922791 SCV003810669 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-03-25 criteria provided, single submitter clinical testing

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