ClinVar Miner

Submissions for variant NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)

gnomAD frequency: 0.00328  dbSNP: rs143192349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472321 SCV000557569 benign Primary ciliary dyskinesia 30 2024-01-29 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000472321 SCV001438385 likely benign Primary ciliary dyskinesia 30 2020-09-16 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000472321 SCV002761429 likely benign Primary ciliary dyskinesia 30 2020-02-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000472321 SCV003799355 likely benign Primary ciliary dyskinesia 30 2022-09-16 criteria provided, single submitter clinical testing
GeneDx RCV003221998 SCV003918487 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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