ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)

gnomAD frequency: 0.45869  dbSNP: rs10950854
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079625 SCV000111508 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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, part of Exact Sciences RCV000079625 SCV000307564 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina 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
GeneDx RCV001705735 SCV001835244 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664273 SCV001875554 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079625 SCV001741290 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079625 SCV001971628 benign not specified no assertion criteria provided clinical testing

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