ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.513C>T (p.Phe171=)

gnomAD frequency: 0.00005  dbSNP: rs190838132
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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 RCV000867586 SCV001008830 likely benign Alpha-1-antitrypsin deficiency 2024-01-26 criteria provided, single submitter clinical testing

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