ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr) (rs2214326)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155492 SCV000205190 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala3467Thr in exon 64 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 38.5% (1532/3984) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2214326).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155492 SCV000231917 benign not specified 2014-07-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000155492 SCV000307414 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391240 SCV000468192 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000391240 SCV001000041 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155492 SCV001743523 benign not specified no assertion criteria provided clinical testing

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