Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079625 | SCV000111508 | benign | not specified | 2013-05-09 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079625 | SCV000197606 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Asn235Asn in exon 4 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 47.0% (1718/3656) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs10950854). |
Preventiongenetics, |
RCV000079625 | SCV000307564 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000384486 | SCV000468040 | benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000384486 | SCV001000029 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705735 | SCV001835244 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664273 | SCV001875554 | benign | Primary ciliary dyskinesia 7 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000079625 | SCV001741290 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000079625 | SCV001971628 | benign | not specified | no assertion criteria provided | clinical testing |