Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726273 | SCV000343353 | uncertain significance | not provided | 2016-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726273 | SCV000728032 | likely benign | not provided | 2019-04-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078588 | SCV001017986 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418128 | SCV002726133 | likely benign | Cardiovascular phenotype | 2022-04-25 | 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. |
Prevention |
RCV003977803 | SCV004791406 | likely benign | FLNC-related disorder | 2019-04-12 | 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). |