ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2835+8T>C (rs202141372)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193763 SCV000247021 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000193763 SCV000312966 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000193763 SCV000333085 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV001084540 SCV000562419 likely benign CHARGE association 2020-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589620 SCV000699435 benign not provided 2016-01-04 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located at a non-conserved intronic position, not widely known to affect splicing with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 69/108302 (1/1569), predominantly in the European (Non-Finnish) cohort, 55/60222 (1/1094), which exceeds the maximum expected allele frequency for a pathogenic CHD7 variant of 1/769230. The variant of interest has been reported in one individual affected with normosmic idiopathic hypogonadotropic hypogonadism via publications. Multiple reputable clinical laboratories have cited the variant with varying classifications: "uncertain significance" or "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Illumina Clinical Services Laboratory,Illumina RCV001160793 SCV001322620 likely benign Hypogonadotropic hypogonadism 5 with or without anosmia 2017-11-13 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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