Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082262 | SCV000114211 | uncertain significance | not provided | 2015-01-26 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001197716 | SCV001368495 | benign | Smith-Magenis syndrome | 2018-11-07 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2,A. |
Baylor Genetics | RCV001197716 | SCV001527087 | uncertain significance | Smith-Magenis syndrome | 2018-02-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000082262 | SCV002372319 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321580 | SCV002609355 | likely benign | Inborn genetic diseases | 2018-04-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Prevention |
RCV003905069 | SCV004724858 | likely benign | RAI1-related condition | 2020-02-04 | 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). |