Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152275 | SCV000201125 | uncertain significance | not specified | 2014-08-07 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Thr16829Met var iant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3818 African American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs373527448). Th e threonine (Thr) at position 16829 is not conserved in mammals or evolutionaril y distant species and at least 7 fish species carry a methionine (Met) at this p osition, raising the possibility that this change may be tolerated. In summary, while the clinical significance of the Thr16829Met variant is uncertain, these d ata suggest that it is more likely to be benign. |
Eurofins Ntd Llc |
RCV000723958 | SCV000228181 | uncertain significance | not provided | 2014-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643314 | SCV000765001 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723958 | SCV000984154 | likely benign | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149926 | SCV003838595 | likely benign | Cardiomyopathy | 2021-06-02 | criteria provided, single submitter | clinical testing |