ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4138-6T>C

gnomAD frequency: 0.00325  dbSNP: rs182330071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425756 SCV000524891 benign not specified 2016-04-05 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.
Invitae RCV001083833 SCV000563088 benign Developmental and epileptic encephalopathy 94 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000476321 SCV001143541 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000476321 SCV003917428 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CHD2: BP4, BS1

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