Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152333 | SCV000201228 | likely benign | not specified | 2013-07-17 | criteria provided, single submitter | clinical testing | Val14768Ile in exon 222 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Two mammalian species (mouse and platypus) carry an isoleucine (Ile, this variant) despite high nearby amino acid conservation, suggesting that this change does not result in disease . |
Eurofins Ntd Llc |
RCV000724961 | SCV000332761 | uncertain significance | not provided | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724961 | SCV001766723 | likely benign | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000724961 | SCV003824244 | uncertain significance | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing |