ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.474A>C (p.Thr158=)

gnomAD frequency: 0.00001  dbSNP: rs780468448
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Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003444623 SCV001679706 likely benign Epilepsy with myoclonic atonic seizures 2025-01-28 criteria provided, single submitter clinical testing

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