ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2298G>T (p.Leu766=)

gnomAD frequency: 0.00018  dbSNP: rs773587323
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 RCV001514265 SCV001722065 benign Developmental and epileptic encephalopathy, 26 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001751780 SCV001985079 benign not provided 2021-07-23 criteria provided, single submitter clinical testing

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