ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1047A>G (p.Ala349=)

dbSNP: rs1303463945
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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 RCV001480565 SCV001684885 likely benign Alpha-1-antitrypsin deficiency 2018-12-27 criteria provided, single submitter clinical testing

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