ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)

gnomAD frequency: 0.00004  dbSNP: rs779379680
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304638 SCV001493930 likely benign Developmental and epileptic encephalopathy, 26 2024-11-16 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252358 SCV002522950 uncertain significance See cases 2021-02-19 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Revvity Omics, Revvity RCV001304638 SCV003813983 uncertain significance Developmental and epileptic encephalopathy, 26 2020-07-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692456 SCV005195025 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001304638 SCV006058478 uncertain significance Developmental and epileptic encephalopathy, 26 2023-02-21 criteria provided, single submitter research

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