ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) (rs141947938)

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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 RCV000145657 SCV000192758 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145657 SCV000202452 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145657 SCV000312955 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000464845 SCV000562414 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000464845 SCV000803463 benign CHARGE association 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a 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. BS4 => Lack of segregation in affected members of a family. (PMID:21995344).
Ambry Genetics RCV000716498 SCV000847339 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
Mendelics RCV000464845 SCV001137629 benign CHARGE association 2019-05-28 criteria provided, single submitter clinical testing

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