Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723788 | SCV000203679 | uncertain significance | not provided | 2015-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085457 | SCV000555530 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723788 | SCV000719651 | likely benign | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617188 | SCV000736599 | likely benign | Cardiovascular phenotype | 2016-05-20 | 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 |
RCV000723788 | SCV002822731 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Revvity Omics, |
RCV000723788 | SCV003822342 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing |