Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000385383 | SCV000345024 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000385383 | SCV001471637 | likely benign | not provided | 2019-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001425212 | SCV001627836 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271486 | SCV002555992 | likely benign | not specified | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165776 | SCV003887560 | likely benign | Cardiovascular phenotype | 2023-02-23 | 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. |