ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1851T>C (p.Ala617=)

gnomAD frequency: 0.00001  dbSNP: rs1367884140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404274 SCV001606172 likely benign Epileptic encephalopathy 2024-10-23 criteria provided, single submitter clinical testing

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