Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081877 | SCV000113812 | uncertain significance | not provided | 2012-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080363 | SCV001013940 | likely benign | Cohen syndrome | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336236 | SCV002643613 | uncertain significance | Inborn genetic diseases | 2017-05-31 | criteria provided, single submitter | clinical testing | The p.I3976T variant (also known as c.11927T>C), located in coding exon 61 of the VPS13B gene, results from a T to C substitution at nucleotide position 11927. The isoleucine at codon 3976 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003925075 | SCV004739679 | likely benign | VPS13B-related disorder | 2022-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001080363 | SCV001454490 | likely benign | Cohen syndrome | 2019-11-11 | no assertion criteria provided | clinical testing |