Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594159 | SCV000700463 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000594159 | SCV001057544 | likely benign | not provided | 2024-12-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335766 | SCV001528998 | uncertain significance | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000594159 | SCV001802360 | likely benign | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001662637 | SCV001880553 | benign | not specified | 2020-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530950 | SCV003634980 | likely benign | Inborn genetic diseases | 2021-08-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Prevention |
RCV004737850 | SCV005349789 | likely benign | OPA1-related disorder | 2024-03-15 | no assertion criteria provided | 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). |