ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.978C>T (p.Val326=)

gnomAD frequency: 0.00001  dbSNP: rs752267053
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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) RCV000728634 SCV000856234 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV003768179 SCV004671568 likely benign Alpha-1-antitrypsin deficiency 2024-01-14 criteria provided, single submitter clinical testing

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