Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117037 | SCV000151160 | benign | not specified | 2013-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117037 | SCV000168554 | benign | not specified | 2014-04-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000227021 | SCV000290694 | benign | Walker-Warburg congenital muscular dystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000117037 | SCV000314264 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000576519 | SCV000677299 | benign | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2017-05-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811960 | SCV001470734 | benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408618 | SCV002721240 | benign | Cardiovascular phenotype | 2018-12-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117037 | SCV004038558 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272536 | SCV001454626 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000117037 | SCV001917147 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117037 | SCV001964885 | benign | not specified | no assertion criteria provided | clinical testing |