ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.470A>G (p.Asp157Gly)

gnomAD frequency: 0.00003  dbSNP: rs749118243
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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 RCV001444009 SCV001647001 likely benign Alpha-1-antitrypsin deficiency 2024-05-21 criteria provided, single submitter clinical testing

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