Submissions for variant NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)

gnomAD frequency: 0.00649  dbSNP: rs62000409

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226680	SCV000290396	benign	Primary ciliary dyskinesia	2024-01-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000254412	SCV000313058	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124880	SCV001283885	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV000226680	SCV002691203	benign	Primary ciliary dyskinesia	2016-10-19	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001124880	SCV004562186	likely benign	Primary ciliary dyskinesia 15	2023-09-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004709406	SCV005255732	benign	not provided		criteria provided, single submitter	not provided