ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln)

gnomAD frequency: 0.00246  dbSNP: rs61729351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234074 SCV000290427 likely benign Primary ciliary dyskinesia 23 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461011 SCV002756033 benign Primary ciliary dyskinesia 2017-12-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004705063 SCV005227695 likely benign not provided criteria provided, single submitter not provided

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