ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1083G>T (p.Val361=)

dbSNP: rs13868
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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 RCV002075574 SCV002381743 likely benign Alpha-1-antitrypsin deficiency 2021-08-23 criteria provided, single submitter clinical testing

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