ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=)

gnomAD frequency: 0.00014  dbSNP: rs199998696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005056166 SCV000655684 likely benign Epilepsy with myoclonic atonic seizures 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001576863 SCV001804132 benign not provided 2021-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543227 SCV004784148 likely benign SLC6A1-related disorder 2021-07-13 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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