ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)

gnomAD frequency: 0.00003  dbSNP: rs766317271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000176921 SCV000228698 uncertain significance not provided 2015-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715905 SCV000846737 likely benign History of neurodevelopmental disorder 2016-05-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000176921 SCV001019828 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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