ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=)

dbSNP: rs2124942636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005058140 SCV002489789 likely benign Epilepsy with myoclonic atonic seizures 2022-02-02 criteria provided, single submitter clinical testing

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