ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val) (rs150631721)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153157 SCV000202624 benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000153157 SCV000268991 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala3659Val in exon 67 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (6/200) of Han Chinese chromo somes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.n ih.gov/projects/SNP; dbSNP rs150631721).
Illumina Clinical Services Laboratory,Illumina RCV000271550 SCV000468198 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000271550 SCV000750520 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing

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