Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000115773 | SCV000149682 | likely benign | not specified | 2013-12-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000679448 | SCV000166504 | benign | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679448 | SCV001152269 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | EPCAM: BP4 |
Genomic Research Center, |
RCV000679448 | SCV001251958 | benign | not provided | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000679448 | SCV002010476 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000115773 | SCV002070911 | likely benign | not specified | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000679448 | SCV005263950 | likely benign | not provided | criteria provided, single submitter | not provided | ||
True Health Diagnostics | RCV000678996 | SCV000805262 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-30 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003891613 | SCV000806398 | benign | EPCAM-related disorder | 2020-01-10 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |