ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1065+10C>T

gnomAD frequency: 0.00001  dbSNP: rs56388024
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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) RCV000591160 SCV000704647 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079262 SCV001007044 likely benign Alpha-1-antitrypsin deficiency 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962685 SCV004785725 likely benign SERPINA1-related disorder 2023-03-28 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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