Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513558 | SCV000609327 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Labcorp Genetics |
RCV001088193 | SCV000650367 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000591347 | SCV000701163 | likely benign | not specified | 2016-11-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000591347 | SCV005204641 | likely benign | not specified | 2024-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004955567 | SCV005471658 | likely benign | Inborn genetic diseases | 2024-11-10 | 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 |
RCV004722852 | SCV005338135 | likely benign | PLEC-related disorder | 2024-09-23 | 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). |