ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) (rs61753721)

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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 RCV000081886 SCV000113821 benign not specified 2013-03-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081886 SCV000316191 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000417740 SCV000510907 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083808 SCV000630865 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000417740 SCV000841629 likely benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715381 SCV000846210 benign History of neurodevelopmental disorder 2017-04-07 criteria provided, single submitter clinical testing Other data supporting benign classification;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV001083808 SCV001325571 benign Cohen syndrome 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000081886 SCV000153486 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.

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