ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) (rs201950393)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435151 SCV000512575 likely benign not specified 2018-02-05 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 RCV001083381 SCV000553248 benign Epileptic encephalopathy, childhood-onset 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718813 SCV000849677 likely benign History of neurodevelopmental disorder 2017-09-07 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Athena Diagnostics Inc RCV000460988 SCV001143542 likely benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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