Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040322 | SCV000064013 | uncertain significance | not specified | 2012-05-24 | criteria provided, single submitter | clinical testing | The Val14559Phe variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in a ve ry large and broad population by the NHLBI Exome Sequencing Project (http://evs. gs.washington.edu/EVS). This low frequency is consistent with a disease causing role, but insufficient to establish this with confidence. Valine at position 145 59 is not well conserved in evolution, suggesting that a change may be tolerated . Other computational analyses (biochemical amino acid properties, AlignGVGD, Po lyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical signific ance of the Val14559Phe variant. |
Eurofins Ntd Llc |
RCV000730360 | SCV000858090 | uncertain significance | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490563 | SCV002784271 | 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 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000730360 | SCV001919122 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000730360 | SCV001932533 | uncertain significance | not provided | no assertion criteria provided | clinical testing |