ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) (rs71640285)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247781 SCV000312945 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000247781 SCV000340987 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000247781 SCV000594097 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659296 SCV000781101 uncertain significance CHARGE association 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716233 SCV000847071 likely benign History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000247781 SCV000864332 likely benign not specified 2017-07-17 criteria provided, single submitter clinical testing BS1, BP1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000659296 SCV001000714 likely benign CHARGE association 2020-11-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160695 SCV001322516 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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