ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) (rs754894988)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594650 SCV000703789 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719439 SCV000850306 benign History of neurodevelopmental disorder 2016-11-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000594650 SCV000967184 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gln2438Pro in exon 34 of CHD7: This variant is not expected to have clinical s ignificance because it has been identified in 0.51% (59/11570) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754894988).
Invitae RCV000867188 SCV001008386 benign CHARGE association 2020-11-18 criteria provided, single submitter clinical testing

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