ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4254+13G>A

gnomAD frequency: 0.00021  dbSNP: rs371484690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155486 SCV000205183 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing 4254+13G>A in intron 23 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 0.1% (8/8288) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS).
PreventionGenetics, part of Exact Sciences RCV000155486 SCV000307507 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002516132 SCV003483571 likely benign Primary ciliary dyskinesia 2024-01-10 criteria provided, single submitter clinical testing

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