Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727355 | SCV000528699 | likely benign | not provided | 2021-06-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16344347, 27535533) |
Invitae | RCV001083062 | SCV000559442 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727355 | SCV000707813 | uncertain significance | not provided | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393016 | SCV002698892 | likely benign | Cardiovascular phenotype | 2019-11-12 | 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. |
Ce |
RCV000727355 | SCV004139822 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | FKRP: BP4, BP7 |
Prevention |
RCV003912735 | SCV004735566 | likely benign | FKRP-related condition | 2021-06-18 | 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, |
RCV001273522 | SCV001456659 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-09-16 | no assertion criteria provided | clinical testing |