ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.825C>T (p.Ile275=)

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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 RCV003527127 SCV004354086 likely benign Alpha-1-antitrypsin deficiency 2024-01-08 criteria provided, single submitter clinical testing

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