Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003147974 | SCV003835486 | likely pathogenic | Hypertrophic cardiomyopathy 9 | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147977 | SCV003835497 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147979 | SCV003835498 | likely pathogenic | Early-onset myopathy with fatal cardiomyopathy | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147975 | SCV003835512 | likely pathogenic | Dilated cardiomyopathy 1G | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147978 | SCV003835531 | likely pathogenic | Myopathy, myofibrillar, 9, with early respiratory failure | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147976 | SCV003836485 | likely pathogenic | Tibial muscular dystrophy | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004763602 | SCV005372182 | likely pathogenic | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22335739) |