ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val)

gnomAD frequency: 0.00007  dbSNP: rs149800596
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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 RCV001462958 SCV001666886 likely benign Alpha-1-antitrypsin deficiency 2023-11-07 criteria provided, single submitter clinical testing

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