Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223422 | SCV000269000 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 4726-15T>C in intron 26 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 6.7% (12/178) of Japanese chromo somes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.n ih.gov/projects/SNP; dbSNP rs17144822). |
Prevention |
RCV000223422 | SCV000307523 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000284425 | SCV000468101 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001594876 | SCV001829778 | benign | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000284425 | SCV002402954 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing |