Submissions for variant NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)

gnomAD frequency: 0.01035  dbSNP: rs144397126

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000310801	SCV000440825	likely benign	Cranioectodermal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522318	SCV001731837	benign	Cranioectodermal dysplasia 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001572701	SCV001941224	benign	not provided	2020-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30389748)
Breakthrough Genomics, Breakthrough Genomics	RCV001572701	SCV005257725	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572701	SCV001797470	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723939	SCV001955858	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572701	SCV001974618	likely benign	not provided		no assertion criteria provided	clinical testing