ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) (rs28940272)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081920 SCV000113855 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081920 SCV000249424 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000513475 SCV000512680 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26764160, 31943017, 15141358, 31736247)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513475 SCV000609318 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513475 SCV000610298 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000002955 SCV000630893 likely benign Cohen syndrome 2020-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716590 SCV000847431 likely benign History of neurodevelopmental disorder 2018-09-29 criteria provided, single submitter clinical testing Other data supporting benign classification
Mendelics RCV000002955 SCV001137686 likely benign Cohen syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000002955 SCV001322372 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000002955 SCV000023113 pathogenic Cohen syndrome 2004-07-01 no assertion criteria provided literature only
Natera, Inc. RCV000002955 SCV001461446 benign Cohen syndrome 2019-12-29 no assertion criteria provided clinical testing

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