ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.623A>C (p.Gln208Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV003128357 SCV003804557 likely pathogenic Hepatic methionine adenosyltransferase deficiency 2022-08-07 criteria provided, single submitter clinical testing

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