ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn)

gnomAD frequency: 0.00001  dbSNP: rs773222881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593655 SCV000706821 uncertain significance not provided 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV001088192 SCV001006237 likely benign Alpha-1-antitrypsin deficiency 2023-09-28 criteria provided, single submitter clinical testing

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