ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val) (rs6461613)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155495 SCV000205193 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Met4165Val in exon 76 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 44.0% (1752/3986) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs6461613).
PreventionGenetics,PreventionGenetics RCV000155495 SCV000307446 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377139 SCV000468223 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000377139 SCV001000045 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155495 SCV001742767 benign not specified no assertion criteria provided clinical testing

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