Submissions for variant NM_017950.4(CCDC40):c.2832+462_2832+463insCAC

dbSNP: rs10693712

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202732	SCV000257843	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399512	SCV000407213	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000202732	SCV000538612	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx	RCV001594870	SCV001828480	benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000202732	SCV001741753	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000202732	SCV001798592	benign	not specified		no assertion criteria provided	clinical testing