ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.339G>T (p.Gly113=)

dbSNP: rs766579887
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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 RCV001057070 SCV001221545 benign Epileptic encephalopathy 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883542 SCV004699853 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing GABBR2: BP4, BP7

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