ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) (rs72655977)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155482 SCV000205178 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser313Ser in exon 5 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.8% (69/8254) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs72655977).
PreventionGenetics,PreventionGenetics RCV000155482 SCV000307603 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155482 SCV000339404 benign not specified 2016-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296338 SCV000468044 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000296338 SCV000562009 benign Primary ciliary dyskinesia 2020-12-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310953 SCV001500951 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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