ClinVar Miner

Submissions for variant NM_000687.4(AHCY):c.309G>A (p.Lys103=)

gnomAD frequency: 0.00001  dbSNP: rs201902693
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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 RCV002207904 SCV002373740 likely benign Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2025-01-11 criteria provided, single submitter clinical testing

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