ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.-4C>T

gnomAD frequency: 0.00014  dbSNP: rs375475234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704989 SCV000241084 benign not provided 2020-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368407 SCV000456003 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003982936 SCV004796105 likely benign GABRA1-related disorder 2019-12-16 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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