ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.692+10A>G

dbSNP: rs370469675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196737 SCV001367369 uncertain significance Developmental and epileptic encephalopathy 94 2019-08-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196737 SCV001632268 likely benign Developmental and epileptic encephalopathy 94 2022-03-18 criteria provided, single submitter clinical testing

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