ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5154-75C>T

gnomAD frequency: 0.17303  dbSNP: rs12905032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839836 SCV000981743 benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001579011 SCV001806398 benign Developmental and epileptic encephalopathy 94 2021-07-22 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594199 SCV005087822 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 34% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 32. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000839836 SCV005297532 benign not provided criteria provided, single submitter not provided

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