ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5528A>C (p.His1843Pro)

dbSNP: rs1783249574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310954 SCV001500952 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290686 SCV002581383 uncertain significance Primary ciliary dyskinesia 7 2022-03-31 criteria provided, single submitter clinical testing

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