ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) (rs75933366)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224306 SCV000281586 benign not provided 2015-04-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277174 SCV000470803 benign Cohen syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000277174 SCV000755405 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715618 SCV000846447 benign History of neurodevelopmental disorder 2017-07-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000118840 SCV000153491 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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