Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642225 | SCV000763879 | benign | Vici syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003338710 | SCV004059966 | likely benign | Inborn genetic diseases | 2023-06-16 | 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. |
Breakthrough Genomics, |
RCV004710176 | SCV005250095 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003918036 | SCV004730284 | likely benign | EPG5-related disorder | 2023-04-10 | 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). |