ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)

gnomAD frequency: 0.00006  dbSNP: rs553367989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000289922 SCV000336701 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719883 SCV000850754 likely benign History of neurodevelopmental disorder 2019-05-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Baylor Genetics RCV001330440 SCV001522120 uncertain significance Autism, susceptibility to, 18 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000289922 SCV001939447 benign not provided 2020-09-10 criteria provided, single submitter clinical testing

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