ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5266G>A (p.Glu1756Lys) (rs116524991)

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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 RCV000220686 SCV000270150 likely benign not specified 2015-09-03 criteria provided, single submitter clinical testing p.Glu1756Lys in exon 32 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 0.4% (285/66740) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs116524991).
Invitae RCV000227501 SCV000287085 likely benign Primary ciliary dyskinesia 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000220686 SCV000307786 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000220686 SCV000702001 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152320 SCV001313532 likely benign Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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