Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041184 | SCV000064875 | likely benign | not specified | 2012-08-13 | criteria provided, single submitter | clinical testing | Arg279Cys in exon 8 of NEXN: This variant has been reported in 1 Asian individua l with HCM, segregated in 2 affected relatives, was absent from 384 race-matched control chromosomes, and resulted in a local accumulation of the protein in cel l culture studies (Wang 2010). However, this variant has been identified in 1.3% (5/394) of Han Chinese chromosomes from a broad population by the 1000 Genomes project (dbSNP rs146245480). At this frequency this variant is most likely beni gn though a modifying role cannot be excluded. |
Soonchunhyang University Bucheon Hospital, |
RCV000023985 | SCV000267418 | uncertain significance | Hypertrophic cardiomyopathy 20 | 2016-03-18 | criteria provided, single submitter | reference population | |
Gene |
RCV001719699 | SCV000515693 | likely benign | not provided | 2019-09-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23840593, 24503780, 20970104, 32344918) |
Invitae | RCV000460527 | SCV000560172 | benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-12-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769818 | SCV000901244 | benign | Cardiomyopathy | 2019-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003934850 | SCV004752242 | likely benign | NEXN-related condition | 2019-06-26 | 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). |
OMIM | RCV000023985 | SCV000045276 | pathogenic | Hypertrophic cardiomyopathy 20 | 2010-11-12 | no assertion criteria provided | literature only | |
Blueprint Genetics | RCV000143936 | SCV000188814 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-01-30 | no assertion criteria provided | clinical testing |