Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000781999 | SCV000920459 | likely pathogenic | Lynch syndrome | 2018-10-18 | reviewed by expert panel | curation | Patient RNA and minigene test: skip exon 6 (out of frame), no full length transcript ({PMID26247049:Klift vd et al., 2015}) |
Myriad Genetics, |
RCV003453614 | SCV004185894 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-14 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [Myriad internal data]. |