Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154872 | SCV000204554 | uncertain significance | not specified | 2019-01-18 | criteria provided, single submitter | clinical testing | The p.Arg32069Gln variant in TTN has not been reported in individuals with cardiomyopathy, but has been identified in 3/3846 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs199642423). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000734113 | SCV000862229 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483344 | SCV002788332 | 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 | 2021-09-30 | criteria provided, single submitter | clinical testing |