ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5621+11A>T (rs59447021)

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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 RCV000079624 SCV000111507 benign not specified 2013-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079624 SCV000197623 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5621+11A>T in intron 32 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 28.1% (1039/3698) of African American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs59447021).
PreventionGenetics,PreventionGenetics RCV000079624 SCV000307539 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382923 SCV000468120 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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