ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12508-12T>C

gnomAD frequency: 0.03145  dbSNP: rs72658822
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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 RCV000155496 SCV000205194 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 12508-12T>C in intron 76 of DNAH11: This variant is not expected to have clinica l significance because it has been identified in 5.7% (220/3868) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs72658822).
PreventionGenetics, part of Exact Sciences RCV000155496 SCV000307448 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267476 SCV000468224 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001668316 SCV001887814 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Invitae RCV000267476 SCV002379687 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing

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