ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)

gnomAD frequency: 0.00101  dbSNP: rs192989929
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000876656 SCV000329274 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000372172 SCV000335409 likely benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719933 SCV000850805 likely benign History of neurodevelopmental disorder 2018-06-12 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Invitae RCV000876656 SCV001019254 benign not provided 2021-06-28 criteria provided, single submitter clinical testing

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