ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) (rs41272435)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081827 SCV000113762 benign not specified 2016-02-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081827 SCV000192764 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000227557 SCV000290342 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081827 SCV000312967 benign not specified criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000227557 SCV000328313 benign CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227557 SCV000474368 likely benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402699 SCV000474369 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081827 SCV000731855 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser103Thr in exon 2 of CHD7: This variant is not expected to have clinical sig nificance because it has been identified in 1.70% (1123/66212) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs41272435).
Athena Diagnostics Inc RCV000711193 SCV000841524 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715503 SCV000846332 benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000711193 SCV000885197 benign not provided 2017-09-29 criteria provided, single submitter clinical testing

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