ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) (rs45521933)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145699 SCV000113795 likely benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145699 SCV000192807 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282690 SCV000474516 likely benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349365 SCV000474517 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.
Invitae RCV000282690 SCV000562408 likely benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590628 SCV000699441 likely benign not provided 2016-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000145699 SCV000714566 likely benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000716412 SCV000847252 benign History of neurodevelopmental disorder 2019-03-26 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000145699 SCV000966398 likely benign not specified 2018-05-18 criteria provided, single submitter clinical testing p.Leu2806Val in exon 38 of CHD7: This variant is classified as likely benign bec ause it has been identified in 0.37% (85/22966) of African chromosomes (included in 322/269740 total chromosomes) by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs45521933). ACMG/AMP Criteria applied: BS 1.

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