ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.2661-20C>T

gnomAD frequency: 0.01890  dbSNP: rs56377484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540639 SCV001758543 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071954 SCV002402852 benign Epileptic encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540639 SCV005222503 likely benign not provided criteria provided, single submitter not provided

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