Submissions for variant NM_052989.3(IFT122):c.1993-7G>C

dbSNP: rs2285354

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175375	SCV000226848	benign	not specified	2015-06-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175375	SCV000315261	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399437	SCV000440827	benign	Cranioectodermal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000175375	SCV000728716	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.
Invitae	RCV000614068	SCV001731745	benign	Cranioectodermal dysplasia 1	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000614068	SCV001933281	benign	Cranioectodermal dysplasia 1	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614068	SCV000734244	benign	Cranioectodermal dysplasia 1		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000175375	SCV001967912	benign	not specified		no assertion criteria provided	clinical testing