Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244029 | SCV000309847 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000306408 | SCV000410025 | likely benign | Osteopetrosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000344991 | SCV000410026 | likely benign | Bone Paget disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000244029 | SCV000540554 | benign | not specified | 2016-03-28 | 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: MAF |
Invitae | RCV001512752 | SCV001720212 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001512752 | SCV001903636 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001838575 | SCV002098578 | benign | Familial expansile osteolysis | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001838576 | SCV002098579 | benign | Autosomal recessive osteopetrosis 7 | 2021-09-10 | criteria provided, single submitter | clinical testing |