Submissions for variant NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)

gnomAD frequency: 0.00968  dbSNP: rs4889815

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246017	SCV000313085	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000476583	SCV000558494	benign	Primary ciliary dyskinesia	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001125960	SCV001285098	benign	Primary ciliary dyskinesia 15	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001568226	SCV001792061	likely benign	not provided	2020-04-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000476583	SCV002745273	benign	Primary ciliary dyskinesia	2016-08-05	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001125960	SCV004562901	benign	Primary ciliary dyskinesia 15	2023-11-01	criteria provided, single submitter	clinical testing