Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725447 | SCV000337015 | uncertain significance | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000374563 | SCV000594520 | uncertain significance | not specified | 2015-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085933 | SCV000636587 | likely benign | Kleefstra syndrome 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725447 | SCV001907062 | benign | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429220 | SCV002741517 | benign | Inborn genetic diseases | 2019-05-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV000725447 | SCV004164052 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4 |
Prevention |
RCV003909961 | SCV004724496 | likely benign | EHMT1-related disorder | 2019-07-29 | 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). |