Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214859 | SCV000269751 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 2242-8T>C in intron 18A of RPGR: This variant is not expected to have clinical s ignificance because it has been identified in 3.3% (125/3788) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs112368541). |
Prevention |
RCV000214859 | SCV000303617 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000548368 | SCV000623949 | benign | Primary ciliary dyskinesia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566969 | SCV001790567 | likely benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing |