ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)

gnomAD frequency: 0.00011  dbSNP: rs113817720
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728194 SCV000855738 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485855 SCV002790565 uncertain significance Alpha-1-antitrypsin deficiency 2022-02-11 criteria provided, single submitter clinical testing
Invitae RCV002485855 SCV003280150 likely benign Alpha-1-antitrypsin deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918187 SCV004730174 likely benign SERPINA1-related disorder 2023-08-13 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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