Submissions for variant NM_052989.3(IFT122):c.740+15G>A

gnomAD frequency: 0.13063  dbSNP: rs56379561

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248999	SCV000315266	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307477	SCV000440808	benign	Cranioectodermal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000248999	SCV000728806	benign	not specified	2017-09-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001701826	SCV001933278	benign	Cranioectodermal dysplasia 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001701826	SCV002328581	benign	Cranioectodermal dysplasia 1	2024-01-31	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248999	SCV001954500	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000248999	SCV001966425	benign	not specified		no assertion criteria provided	clinical testing