ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.-4G>A

gnomAD frequency: 0.00022  dbSNP: rs374417614
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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) RCV000595369 SCV000703443 uncertain significance not provided 2016-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905526 SCV004727166 likely benign SERPINA1-related disorder 2021-12-30 no assertion criteria provided 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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