ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) (rs72657320)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000242652 SCV000111504 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
Invitae RCV000227873 SCV000287005 benign Primary ciliary dyskinesia 2020-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242652 SCV000307514 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000242652 SCV001365793 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val1477Ala in exon 25 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 6.1% (8/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs72657320).

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