ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.2542+6del

gnomAD frequency: 0.00003  dbSNP: rs774664411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518598 SCV001727327 benign Epileptic encephalopathy 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883686 SCV004701049 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GABBR2: BP4

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