ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1060-7C>T

gnomAD frequency: 0.00054  dbSNP: rs368961588
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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 RCV001084028 SCV000632035 likely benign Idiopathic generalized epilepsy 2023-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711727 SCV000842115 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711727 SCV001147104 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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