Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000714050 | SCV000336314 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000474114 | SCV000542556 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000714050 | SCV000732422 | uncertain significance | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function |
Athena Diagnostics Inc | RCV000714050 | SCV000844715 | uncertain significance | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170608 | SCV001333197 | likely benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450807 | SCV002739380 | benign | Cardiovascular phenotype | 2022-04-15 | criteria provided, single submitter | clinical testing | This alteration is classified as 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, |
RCV002494837 | SCV002781474 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003401244 | SCV004121179 | uncertain significance | TTN-related condition | 2023-04-25 | criteria provided, single submitter | clinical testing | The TTN c.53122_53123delinsGT variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. Of note, at PreventionGenetics we have observed the c.53122_53123delinsGT and c.21548G>A variants in three other presumably unrelated patients with neuromuscular features. Familial testing indicated these variants are on the same allele. (cis phase). |
Mayo Clinic Laboratories, |
RCV000714050 | SCV004225861 | uncertain significance | not provided | 2023-05-22 | criteria provided, single submitter | clinical testing | PM2 |