Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861684 | SCV001002066 | benign | not provided | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986662 | SCV001135719 | benign | Lynch syndrome 1 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000861684 | SCV001158896 | benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171072 | SCV001333742 | likely benign | Breast and/or ovarian cancer | 2019-04-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002259038 | SCV002526760 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-16 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV001796282 | SCV002552210 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975375 | SCV004793491 | likely benign | MSH2-related condition | 2021-03-02 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV001796282 | SCV002034479 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001796282 | SCV002036926 | benign | not specified | no assertion criteria provided | clinical testing |