ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1978G>A (p.Val660Ile)

gnomAD frequency: 0.00001  dbSNP: rs753754746
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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 RCV003117107 SCV003796105 likely benign Epileptic encephalopathy 2022-08-22 criteria provided, single submitter clinical testing

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