ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) (rs140090983)

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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 RCV000716164 SCV000847001 likely benign History of neurodevelopmental disorder 2016-08-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768364 SCV000899081 uncertain significance Cohen syndrome 2018-10-16 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 22 p.Thr1068= (c.3204A>G): This variant has not been reported in the literature but is present in 0.008% (3/34304) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-100443886-A-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768364 SCV001019208 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing

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