ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)

gnomAD frequency: 0.00003  dbSNP: rs565025643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421360 SCV000535699 benign not provided 2019-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034480 SCV001197837 benign Developmental and epileptic encephalopathy, 26 2023-11-03 criteria provided, single submitter clinical testing
New York Genome Center RCV001255109 SCV001431202 uncertain significance Seizure 2020-01-31 no assertion criteria provided clinical testing

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