Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150425 | SCV000197605 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Ile192Met in exon 3 of DNAH11: This variant is not expected to have clinical sig nificance because it has been identified in 7.3% (13/178) of Japanese chromosome s from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.g ov/projects/SNP; dbSNP rs72655972). |
Eurofins Ntd Llc |
RCV000150425 | SCV000228957 | benign | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000150425 | SCV000307542 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000259236 | SCV000468035 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000259236 | SCV000561953 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705969 | SCV001829391 | benign | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing |