Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000758621 | SCV000887378 | uncertain significance | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | MSH6 NM_000179.2:c.1290G>A has a 14.1% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194364 | SCV001363852 | likely benign | not specified | 2019-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533819 | SCV003202379 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-06-01 | criteria provided, single submitter | clinical testing |