ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1065+6A>T

gnomAD frequency: 0.00002  dbSNP: rs79078626
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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) RCV000732380 SCV000860333 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908046 SCV004725736 likely benign SERPINA1-related disorder 2023-11-22 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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