ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286504 SCV002576478 uncertain significance Developmental and epileptic encephalopathy, 26 2022-09-21 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PM1, PM2_SUP, PP2, PP3

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