ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=)

gnomAD frequency: 0.00080  dbSNP: rs370827611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719938 SCV000850811 likely benign History of neurodevelopmental disorder 2017-01-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000877381 SCV001020111 benign not provided 2018-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000877381 SCV001841392 benign not provided 2020-02-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001816788 SCV002066288 benign not specified 2018-06-20 criteria provided, single submitter clinical testing

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