Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216884 | SCV000270361 | likely benign | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | p.Ala577Ala in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/58572 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). |
Invitae | RCV000653966 | SCV000775856 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187398 | SCV001354200 | likely benign | Cardiomyopathy | 2019-10-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408924 | SCV002715690 | likely benign | Cardiovascular phenotype | 2019-07-11 | 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. |
Fulgent Genetics, |
RCV002500695 | SCV002813794 | 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 | 2022-04-14 | criteria provided, single submitter | clinical testing |