ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.663C>T (p.Gly221=)

gnomAD frequency: 0.00013  dbSNP: rs371998319
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884142 SCV001027498 likely benign Epileptic encephalopathy 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001683687 SCV001904747 benign not provided 2019-10-08 criteria provided, single submitter clinical testing

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