ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) (rs1567149946)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679946 SCV000807380 uncertain significance Epileptic encephalopathy, childhood-onset 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 10-year-old male with intellectual disability, cryptogenic generalized epilepsy, headache, autism spectrum disorder, mild hypotonia, astigmatism, structural brain abnormalities.

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