ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.885A>T (p.Ala295=)

gnomAD frequency: 0.00332  dbSNP: rs17851642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634911 SCV000756282 benign Hepatic methionine adenosyltransferase deficiency 2024-01-15 criteria provided, single submitter clinical testing

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