ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) (rs201319489)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000193371 SCV000229881 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193371 SCV000247032 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000193371 SCV000313002 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384139 SCV000474509 benign Hypogonadotropic hypogonadism 5 with or without anosmia 2018-01-13 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 RCV000327310 SCV000631281 benign CHARGE association 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718210 SCV000849072 benign History of neurodevelopmental disorder 2016-11-03 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification

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