Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444140 | SCV000518389 | likely benign | not specified | 2016-04-26 | 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. |
Athena Diagnostics | RCV000444140 | SCV000616102 | benign | not specified | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733818 | SCV000861918 | uncertain significance | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001078910 | SCV001007002 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000444140 | SCV002570993 | likely benign | not specified | 2022-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429376 | SCV002741697 | likely benign | Cardiovascular phenotype | 2022-04-21 | 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. |