Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155799 | SCV000205510 | likely benign | not specified | 2015-02-02 | criteria provided, single submitter | clinical testing | p.Ala152Ala in exon 6 of LDB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (49/16512) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org). |
Illumina Laboratory Services, |
RCV000270042 | SCV000365564 | uncertain significance | Myofibrillar myopathy 4 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000332141 | SCV000365565 | uncertain significance | Left ventricular noncompaction cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000389071 | SCV000365566 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292985 | SCV000365567 | uncertain significance | Myofibrillar Myopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000270042 | SCV001014910 | benign | Myofibrillar myopathy 4 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945239 | SCV004769712 | likely benign | LDB3-related disorder | 2019-10-29 | 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). |
Cytogenetics- |
RCV001293330 | SCV001481917 | uncertain significance | Dilated cardiomyopathy 1C | 2015-02-04 | no assertion criteria provided | case-control |