Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502378 | SCV000596449 | uncertain significance | not specified | 2015-11-13 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725600 | SCV000701035 | uncertain significance | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085255 | SCV001019519 | likely 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 | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725600 | SCV001476772 | likely benign | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725600 | SCV003811142 | likely benign | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278854 | SCV003962674 | likely benign | Inborn genetic diseases | 2023-04-18 | 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 |
RCV003902788 | SCV004719458 | likely benign | PLEC-related condition | 2023-09-07 | 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). |