ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.864G>A (p.Glu288=)

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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 RCV005081065 SCV005717047 likely benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2024-06-10 criteria provided, single submitter clinical testing

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