ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11202+13G>A

gnomAD frequency: 0.13824  dbSNP: rs73279830
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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, Mass General Brigham Personalized Medicine RCV000150455 SCV000197641 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 11202+13G>A in intron 68 of DNAH11: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 32.3% (1157/3584) of African American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS; dbSNP rs73279830).
PreventionGenetics, part of Exact Sciences RCV000150455 SCV000307427 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332010 SCV000468202 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001709500 SCV001937958 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Invitae RCV000332010 SCV002408193 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing

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