ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu)

gnomAD frequency: 0.00009  dbSNP: rs374435577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002019498 SCV002284570 likely benign not provided 2024-04-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146468 SCV003831988 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170499 SCV003876474 likely benign Inborn genetic diseases 2023-02-07 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.

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