ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.1272C>T (p.Ser424=)

gnomAD frequency: 0.01920  dbSNP: rs111982349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232696 SCV000290424 benign Primary ciliary dyskinesia 23 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001668397 SCV001882692 benign not provided 2021-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000232696 SCV002506042 benign Primary ciliary dyskinesia 23 2022-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461009 SCV002755031 benign Primary ciliary dyskinesia 2016-07-08 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 RCV001668397 SCV005316449 benign not provided criteria provided, single submitter not provided

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