ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln)

gnomAD frequency: 0.00002  dbSNP: rs151175979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552766 SCV001773518 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072057 SCV002406185 benign Developmental and epileptic encephalopathy, 26 2024-08-03 criteria provided, single submitter clinical testing

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