ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=) (rs56029521)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079622 SCV000111505 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079622 SCV000197618 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile1483Ile in exon 25 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 41.2% (3357/8146) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (; dbSNP rs56029521).
PreventionGenetics,PreventionGenetics RCV000079622 SCV000307515 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263406 SCV000468095 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000263406 SCV001000035 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079622 SCV001744365 benign not specified no assertion criteria provided clinical testing

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