Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000950620 | SCV000604094 | benign | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000950620 | SCV001096947 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000950620 | SCV001794394 | likely benign | not provided | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279291 | SCV002566879 | benign | Connective tissue disorder | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925502 | SCV004746977 | benign | LBR-related condition | 2019-09-24 | criteria provided, single submitter | 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). |