Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252050 | SCV000307940 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000840693 | SCV000982625 | likely benign | not provided | 2018-03-21 | 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. |
Invitae | RCV002058052 | SCV002410274 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000840693 | SCV003917560 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | FLNC: BS1, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000252050 | SCV004029311 | benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000252050 | SCV001916985 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000840693 | SCV001932776 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000840693 | SCV001957657 | likely benign | not provided | no assertion criteria provided | clinical testing |