ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1107C>A (p.Gly369=)

gnomAD frequency: 0.00115  dbSNP: rs148300882
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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 RCV000541195 SCV000632037 benign Idiopathic generalized epilepsy 2024-01-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000599811 SCV000733964 likely benign Epilepsy, idiopathic generalized, susceptibility to, 10 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702673 SCV001929731 likely benign not provided no assertion criteria provided clinical testing

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