ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.54G>T (p.Leu18=)

gnomAD frequency: 0.00001  dbSNP: rs745679666
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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 RCV001433478 SCV001636268 likely benign Alpha-1-antitrypsin deficiency 2023-09-11 criteria provided, single submitter clinical testing

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