Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000830448 | SCV000972183 | benign | not provided | 2018-06-16 | 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. |
ARUP Laboratories, |
RCV000830448 | SCV001159505 | benign | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510731 | SCV001717838 | benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446470 | SCV004173729 | benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446471 | SCV004173730 | benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446469 | SCV004173732 | benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001702844 | SCV001928771 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702844 | SCV001956826 | benign | not specified | no assertion criteria provided | clinical testing |