ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) (rs145569846)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081898 SCV000113833 uncertain significance not provided 2013-10-04 criteria provided, single submitter clinical testing
Invitae RCV000530711 SCV000630874 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716278 SCV000847118 likely benign History of neurodevelopmental disorder 2018-09-26 criteria provided, single submitter clinical testing Insufficient evidence;Other data supporting benign classification;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000530711 SCV000899082 uncertain significance Cohen syndrome 2018-02-02 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 25 p.Thr1289Ser (c.3866C>G): This variant has been reported in the literature as a compound heterozygote (in trans with a multi-exon deletion of this gene) in 1 individual with a diagnosis of Cohen syndrome (Rivera-Brugues 2011 PMID:20921020, gene identified as alternate name COH1). However, this variant is present in 0.5% (125/24018) of African alleles in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:95851). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Mendelics RCV000530711 SCV001137683 uncertain significance Cohen syndrome 2019-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000530711 SCV001456848 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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