ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) (rs41312172)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081849 SCV000113784 benign not specified 2015-02-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081849 SCV000192789 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081849 SCV000312991 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306969 SCV000474476 likely 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). 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.
Invitae RCV000347837 SCV000562422 benign CHARGE association 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081849 SCV000612720 benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716130 SCV000846965 likely benign History of neurodevelopmental disorder 2015-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081849 SCV000967058 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly2094Gly in exon 31 of CHD7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.65% (432/66718) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs41312172).

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