ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) (rs12536928)

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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 RCV000079626 SCV000111509 benign not specified 2013-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079626 SCV000205185 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Phe2430Phe in exon 45 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 49.2% (4012/8162) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs12536928).
PreventionGenetics,PreventionGenetics RCV000079626 SCV000307567 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319765 SCV000468142 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000319765 SCV001000037 benign Primary ciliary dyskinesia 2020-12-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079626 SCV001742624 benign not specified no assertion criteria provided clinical testing

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