ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)

gnomAD frequency: 0.00003  dbSNP: rs750467268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812271 SCV001470769 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518897 SCV001727673 benign Epileptic encephalopathy 2023-12-18 criteria provided, single submitter clinical testing

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