ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4944+6del

gnomAD frequency: 0.00004  dbSNP: rs531049764
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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 RCV000254467 SCV000307525 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407765 SCV000468106 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000407765 SCV002399659 benign Primary ciliary dyskinesia 2025-01-11 criteria provided, single submitter clinical testing

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