Submissions for variant NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)

gnomAD frequency: 0.00001  dbSNP: rs564504598

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001421091	SCV001623607	likely benign	Primary ciliary dyskinesia	2020-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000463546	SCV001989965	uncertain significance	not provided	2019-05-20	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV001421091	SCV002747959	likely benign	Primary ciliary dyskinesia	2022-05-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000463546	SCV001798840	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000463546	SCV001975086	uncertain significance	not provided		no assertion criteria provided	clinical testing