ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)

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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 RCV003640180 SCV004447540 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2023-03-15 criteria provided, single submitter clinical testing

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