ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) (rs370385319)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081853 SCV000113788 uncertain significance not provided 2013-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717184 SCV000848033 likely benign History of neurodevelopmental disorder 2016-10-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001087990 SCV001008100 likely benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164557 SCV001326690 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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