Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037393 | SCV000061050 | benign | not specified | 2011-09-28 | criteria provided, single submitter | clinical testing | This variant is classified as benign because it is located in the intron outside the splice consensus and occurs in the general population at a frequency of >1% (rs3734290). |
Gene |
RCV000037393 | SCV000170043 | benign | not specified | 2014-01-08 | 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. |
Prevention |
RCV000037393 | SCV000308790 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000601243 | SCV000744204 | benign | Dilated cardiomyopathy 1JJ | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000601243 | SCV001981255 | benign | Dilated cardiomyopathy 1JJ | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000601243 | SCV002394371 | benign | Dilated cardiomyopathy 1JJ | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037393 | SCV003929145 | benign | not specified | 2023-04-09 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000601243 | SCV000734425 | benign | Dilated cardiomyopathy 1JJ | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037393 | SCV001923630 | benign | not specified | no assertion criteria provided | clinical testing |