ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=)

dbSNP: rs376061125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001426176 SCV001628825 likely benign Alpha-1-antitrypsin deficiency 2022-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434365 SCV002747067 likely benign Inborn genetic diseases 2021-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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