Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217056 | SCV000269119 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 2265+12C>G in intron 14 of FLNC: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 36.7% (1523/4152) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2291566). |
Prevention |
RCV000217056 | SCV000307937 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000217056 | SCV000519420 | benign | not specified | 2016-02-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000217056 | SCV001774556 | benign | not specified | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054373 | SCV002352749 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000217056 | SCV001923167 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000217056 | SCV001955617 | benign | not specified | no assertion criteria provided | clinical testing |