ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) (rs144257406)

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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 RCV000716166 SCV000847003 benign History of neurodevelopmental disorder 2017-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Sub-population frequency in support of benign classification (not ava blue, manual h-w),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 RCV000224363 SCV000281137 benign not provided 2015-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081904 SCV000113839 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335614 SCV000470813 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000335614 SCV000630877 benign Cohen syndrome 2017-06-13 criteria provided, single submitter clinical testing

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