Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610255 | SCV000710958 | likely benign | not specified | 2016-12-08 | criteria provided, single submitter | clinical testing | c.37379-12C>T in intron 193 of TTN: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has al so been identified in 2/9468 African chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs377143579). |
Gene |
RCV001584409 | SCV001820960 | likely benign | not provided | 2018-09-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002065188 | SCV002380568 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-28 | criteria provided, single submitter | clinical testing |