Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220172 | SCV000270359 | likely benign | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | c.1488+8G>A in intron 8 of LMNA: 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 0.1% (22/16602) South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). |
Eurofins Ntd Llc |
RCV000725758 | SCV000339206 | uncertain significance | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000220172 | SCV000525280 | likely benign | not specified | 2016-03-03 | 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 | RCV001088656 | SCV000775904 | benign | Charcot-Marie-Tooth disease type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173413 | SCV001336501 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002390573 | SCV002698594 | likely benign | Cardiovascular phenotype | 2022-05-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |