ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu)

gnomAD frequency: 0.00001  dbSNP: rs767889610
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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 RCV002124955 SCV002403736 benign Developmental and epileptic encephalopathy, 26 2024-01-02 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002124955 SCV002580666 uncertain significance Developmental and epileptic encephalopathy, 26 2022-02-08 criteria provided, single submitter clinical testing

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