Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152520 | SCV000201707 | benign | not specified | 2021-01-26 | criteria provided, single submitter | clinical testing | The p.Ser755Leu variant in TTN is classified as benign because it has been identified in 0.26% (79/30614) of South Asian chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |
Gene |
RCV001697080 | SCV000722738 | likely benign | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000869244 | SCV001010657 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-06 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798488 | SCV002042404 | benign | Cardiomyopathy | 2019-12-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840120 | SCV002101589 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840121 | SCV002101591 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840122 | SCV002101592 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840119 | SCV002101593 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415644 | SCV002726094 | likely benign | Cardiovascular phenotype | 2020-03-06 | 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. |