Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223469 | SCV000271144 | likely benign | not specified | 2016-02-16 | criteria provided, single submitter | clinical testing | c.337-13T>C in intron 3 of TTR: This variant is not expected to have clinical si gnificance because a T>C change at this position does not diverge from the splic e consensus sequence and is therefore unlikely to impact splicing. It has been i dentified in 1/66280 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs762691667). |
Molecular Genetics Laboratory, |
RCV001173308 | SCV001336392 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002517520 | SCV003459422 | likely benign | Familial amyloid neuropathy | 2022-07-30 | criteria provided, single submitter | clinical testing |