ClinVar Miner

Submissions for variant NM_021147.5(CCNO):c.134C>A (p.Pro45His)

gnomAD frequency: 0.00150  dbSNP: rs139606873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473732 SCV000562727 likely benign Primary ciliary dyskinesia 2024-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660536 SCV000782639 likely benign Primary ciliary dyskinesia 29 2024-03-20 criteria provided, single submitter clinical testing BS1, BP4
CeGaT Center for Human Genetics Tuebingen RCV001311652 SCV001501924 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing

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