Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243934 | SCV000307941 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000243934 | SCV000522870 | benign | not specified | 2016-01-13 | 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. |
Laboratory for Molecular Medicine, |
RCV000243934 | SCV000711503 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 2390-13C>T in intron 15 of FLNC: This variant is not expected to have clinical s ignificance because it has been identified in 3.5% (296/8414) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs78086167). |
Invitae | RCV002058053 | SCV002352345 | 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 | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000243934 | SCV004029322 | benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000243934 | SCV001919926 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000243934 | SCV001928684 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795442 | SCV002036790 | likely benign | not provided | no assertion criteria provided | clinical testing |