ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) (rs61754113)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716459 SCV000847300 benign History of neurodevelopmental disorder 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224724 SCV000281285 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000634114 SCV000755398 benign Cohen syndrome 2018-01-08 criteria provided, single submitter clinical testing

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