ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.336G>A (p.Pro112=)

gnomAD frequency: 0.00004  dbSNP: rs753313462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078757 SCV000630389 likely benign Alpha-1-antitrypsin deficiency 2023-12-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000735034 SCV000863221 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing

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