ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.681C>T (p.Thr227=)

gnomAD frequency: 0.00004  dbSNP: rs766320203
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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 RCV001453706 SCV001657404 likely benign Alpha-1-antitrypsin deficiency 2023-10-31 criteria provided, single submitter clinical testing

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