Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252411 | SCV000309846 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000280881 | SCV000410019 | likely benign | Osteopetrosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000338163 | SCV000410020 | likely benign | Bone Paget disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000252411 | SCV000540553 | 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: Frequency |
Invitae | RCV001512751 | SCV001720211 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001512751 | SCV001834145 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20564239, 21987421) |
Genome Diagnostics Laboratory, |
RCV002278177 | SCV002564691 | benign | Increased bone mineral density | 2022-06-17 | criteria provided, single submitter | clinical testing |