ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) (rs55666134)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079623 SCV000111506 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079623 SCV000197621 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu1830Leu in exon 32 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 15.0% (1240/8258) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (; dbSNP rs55666134).
PreventionGenetics,PreventionGenetics RCV000079623 SCV000307535 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365104 SCV000468117 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000365104 SCV001000036 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing

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