Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000369488 | SCV000337856 | benign | not specified | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000537426 | SCV000636595 | benign | Kleefstra syndrome 1 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001660546 | SCV001881952 | benign | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436106 | SCV002749729 | benign | Inborn genetic diseases | 2018-02-06 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Ce |
RCV001660546 | SCV004164078 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BS1 |
Prevention |
RCV003957438 | SCV004780662 | benign | EHMT1-related condition | 2019-08-14 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |