ClinVar Miner

Submissions for variant NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys)

gnomAD frequency: 0.00001  dbSNP: rs538588580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001399652 SCV001601442 likely benign Primary ciliary dyskinesia 2021-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001399652 SCV002755392 benign Primary ciliary dyskinesia 2017-06-27 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.

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