ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) (rs61753399)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145686 SCV000192792 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145686 SCV000312992 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145686 SCV000512581 benign not specified 2016-04-22 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.
Invitae RCV000458054 SCV000562413 benign CHARGE association 2020-12-02 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000458054 SCV000803586 likely benign CHARGE association 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for CHARGE syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
Ambry Genetics RCV000716492 SCV000847333 benign History of neurodevelopmental disorder 2016-07-01 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 RCV000145686 SCV001365641 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala2160Thr in exon 31 of CHD7: This variant is not expected to have clinical significance because it has been identified in 1.47% (140/9514) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs61753399).

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