ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.69-19G>A

gnomAD frequency: 0.81443  dbSNP: rs2376805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245842 SCV000305551 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057405 SCV002464249 benign Idiopathic generalized epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343729 SCV004048725 benign Epilepsy, idiopathic generalized, susceptibility to, 10 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713446 SCV005282721 benign not provided criteria provided, single submitter not provided

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