Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154939 | SCV000204621 | uncertain significance | not specified | 2014-05-28 | criteria provided, single submitter | clinical testing | The Ile14389Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8218 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; db SNP rs372013419). Isoleucine (Ile) at position 14389 is not well conserved in ev olution and 3 species (alligator, turtle, and lizard) carry a valine (Val) at th is position, raising the possibility that this change may be tolerated. In summa ry, the clinical significance of the Ile14389Val variant is uncertain. |
Invitae | RCV000557157 | SCV000643299 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727305 | SCV000707448 | uncertain significance | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764333 | SCV000895352 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000727305 | SCV003822346 | uncertain significance | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003448271 | SCV004176192 | uncertain significance | Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 | 2023-05-15 | criteria provided, single submitter | clinical testing |