ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003522330 SCV004275276 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-11-13 criteria provided, single submitter clinical testing

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