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
Ambry Genetics RCV000715618 SCV000846447 benign History of neurodevelopmental disorder 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
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
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.
Illumina Clinical Services Laboratory,Illumina RCV000277174 SCV000470803 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000277174 SCV000755405 benign Cohen syndrome 2018-01-08 criteria provided, single submitter clinical testing

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