ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.699T>C (p.Asp233=)

gnomAD frequency: 0.00069  dbSNP: rs9893189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252311 SCV000313115 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865685 SCV001006689 likely benign Primary ciliary dyskinesia 2023-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000865685 SCV002668067 benign Primary ciliary dyskinesia 2021-08-23 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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