ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4921+5G>A

gnomAD frequency: 0.00020  dbSNP: rs377595194
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176538 SCV000228212 uncertain significance not provided 2015-03-30 criteria provided, single submitter clinical testing
Invitae RCV000176538 SCV001023376 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330442 SCV001522122 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000176538 SCV001832989 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345602 SCV002646199 likely benign Inborn genetic diseases 2022-06-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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