Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000758583 | SCV000887330 | likely pathogenic | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | MLH1 NM_000249:c.3G>T has a 96.4% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 26.5 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MLH1 locus. See Shirts et al 2018, PMID 29887214. |
Constitutional Genetics Lab, |
RCV001249905 | SCV001423922 | pathogenic | Lynch-like syndrome | 2019-07-01 | no assertion criteria provided | clinical testing |