ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)

gnomAD frequency: 0.00006  dbSNP: rs148362959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594720 SCV000704522 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV001447395 SCV001650459 likely benign Alpha-1-antitrypsin deficiency 2023-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962683 SCV004785866 likely benign SERPINA1-related disorder 2021-01-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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