ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1323+17C>G

gnomAD frequency: 0.00001  dbSNP: rs1697783020
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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 RCV005058071 SCV002437335 likely benign Epilepsy with myoclonic atonic seizures 2022-08-23 criteria provided, single submitter clinical testing

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