Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002312465 | SCV000847001 | likely benign | Inborn genetic diseases | 2016-08-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Center for Genomics, |
RCV000768364 | SCV000899081 | uncertain significance | Cohen syndrome | 2021-03-30 | 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 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001712735 | SCV001942650 | likely benign | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000768364 | SCV001454825 | likely benign | Cohen syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |