ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) (rs191266255)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150430 SCV000197611 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro722Pro in exon 12 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (14/8142) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs191266255).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724631 SCV000225575 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV000231791 SCV000286989 likely benign Primary ciliary dyskinesia 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231791 SCV000468064 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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