ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.939A>G (p.Thr313=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486110 SCV004235268 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2023-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003486110 SCV004534543 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-12-14 criteria provided, single submitter clinical testing

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