ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11678C>T (p.Thr3893Met)

gnomAD frequency: 0.00010  dbSNP: rs763843747
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629344 SCV000750279 benign Primary ciliary dyskinesia 2024-01-18 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000629344 SCV001431617 uncertain significance Primary ciliary dyskinesia 2020-03-26 criteria provided, single submitter clinical testing

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