ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=)

gnomAD frequency: 0.00009  dbSNP: rs537080482
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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 RCV002318809 SCV000850216 likely benign Inborn genetic diseases 2016-08-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001572414 SCV001797046 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001572414 SCV004278218 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572414 SCV005218414 likely benign not provided criteria provided, single submitter not provided

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