ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6468+14T>C

gnomAD frequency: 0.00469  dbSNP: rs114409690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244883 SCV000307555 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305188 SCV000468130 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000305188 SCV002472606 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing

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