Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079617 | SCV000111500 | benign | not specified | 2015-03-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079617 | SCV000205181 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Gln945Gln in exon 15 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 12.2% (449/3690) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17144747). |
Prevention |
RCV000079617 | SCV000307484 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000332826 | SCV000468076 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000332826 | SCV001000522 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705732 | SCV001868357 | benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing |