Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455180 | SCV000540309 | likely benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: No change to splice consensus |
Gene |
RCV001643158 | SCV001856640 | benign | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807252 | SCV002054742 | benign | Polycystic liver disease 2 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001643158 | SCV002327972 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001807252 | SCV002799885 | likely benign | Polycystic liver disease 2 | 2021-09-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001643158 | SCV005225071 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000455180 | SCV001741983 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000455180 | SCV001958198 | benign | not specified | no assertion criteria provided | clinical testing |