ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)

gnomAD frequency: 0.00005  dbSNP: rs202012891
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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 RCV000247810 SCV000307558 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403052 SCV000468132 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000403052 SCV001013562 likely benign Primary ciliary dyskinesia 2024-09-23 criteria provided, single submitter clinical testing

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