Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426097 | SCV000513502 | likely benign | not specified | 2015-11-16 | 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 | RCV000653988 | SCV000775878 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172633 | SCV001335696 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV001180308 | SCV001345206 | likely benign | Cardiomyopathy | 2019-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411298 | SCV002724057 | likely benign | Cardiovascular phenotype | 2021-05-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Fulgent Genetics, |
RCV002502474 | SCV002807899 | likely benign | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 | 2022-02-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530539 | SCV004725190 | likely benign | LMNA-related disorder | 2023-08-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV003995963 | SCV004824869 | likely benign | Primary dilated cardiomyopathy | 2023-10-06 | criteria provided, single submitter | clinical testing |