Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079250 | SCV000111120 | uncertain significance | not provided | 2013-09-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089235 | SCV001024171 | likely benign | Maple syrup urine disease | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001089235 | SCV002032874 | likely benign | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298133 | SCV003989516 | likely benign | Inborn genetic diseases | 2023-05-22 | 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 |
RCV003894931 | SCV004715924 | likely benign | BCKDHA-related condition | 2024-01-05 | 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). |