Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070728 | SCV001235996 | likely benign | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002554607 | SCV003715025 | likely benign | Inborn genetic diseases | 2022-12-19 | 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. |
Revvity Omics, |
RCV001070728 | SCV003810803 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003963033 | SCV004785388 | likely benign | MCCC1-related condition | 2022-11-29 | 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). |
Natera, |
RCV001070728 | SCV001456484 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2020-01-17 | no assertion criteria provided | clinical testing |