Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117065 | SCV000151207 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117065 | SCV000307926 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000117065 | SCV000519955 | 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. |
Laboratory for Molecular Medicine, |
RCV000117065 | SCV000711693 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Pro486Pro in exon 9 of FLNC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 28.9% (1144/3952) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2291563). |
Athena Diagnostics | RCV000711676 | SCV000842063 | benign | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001511957 | SCV001719283 | 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 | |
Ambry Genetics | RCV002390261 | SCV002699903 | benign | Cardiovascular phenotype | 2018-12-26 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117065 | SCV003929237 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000117065 | SCV001925596 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000117065 | SCV001927994 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000117065 | SCV001958184 | benign | not specified | no assertion criteria provided | clinical testing |