ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)

gnomAD frequency: 0.55959  dbSNP: rs3735801
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118680 SCV000314801 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322051 SCV000472221 benign Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312524 SCV000846127 benign Inborn genetic diseases 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001511980 SCV001719309 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001511980 SCV001852460 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838549 SCV002098716 benign Intellectual disability, autosomal recessive 13 2021-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118680 SCV000153094 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118680 SCV001743262 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118680 SCV001952893 benign not specified no assertion criteria provided clinical testing

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