ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)

gnomAD frequency: 0.00084  dbSNP: rs139964603
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394406 SCV000339683 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085209 SCV001003582 likely benign Alpha-1-antitrypsin deficiency 2024-01-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001085209 SCV003819337 uncertain significance Alpha-1-antitrypsin deficiency 2021-02-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000394406 SCV005409806 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing BP4

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