ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.216T>C (p.Tyr72=) (rs16926453)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081823 SCV000113758 benign not specified 2013-09-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145656 SCV000192757 uncertain significance CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081823 SCV000312953 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290994 SCV000474367 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000145656 SCV000562418 benign CHARGE association 2020-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716057 SCV000846890 benign History of neurodevelopmental disorder 2016-04-08 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 RCV000081823 SCV000967051 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Tyr72Tyr in exon 2 of CHD7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 4.53% (505/11156) of L atino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs16926453).
Athena Diagnostics Inc RCV000857583 SCV001143547 benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081823 SCV000192811 likely benign not specified no assertion criteria provided clinical testing

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