Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600896 | SCV000712187 | likely benign | not specified | 2018-03-22 | criteria provided, single submitter | clinical testing | p.Met8764Val in exon 103 of TTN: This variant classified as likely benign becaus e computational prediction tools and conservation analysis do not predict an imp act on the protein. In addition, the majority of pathogenic variants reported in the TTN gene are loss-of-function variants located in the A-band or in other hi ghly expressed exons. This is a missense variant located in the I-band. ACMG/AMP Criteria applied: BP1; BP4. |
Revvity Omics, |
RCV003488722 | SCV004237102 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing |