Submissions for variant NM_052989.3(IFT122):c.109-15T>C

gnomAD frequency: 0.02307  dbSNP: rs114298924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374177	SCV000440801	likely benign	Cranioectodermal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000609937	SCV000728818	benign	not specified	2017-11-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057832	SCV002384888	benign	Cranioectodermal dysplasia 1	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710921	SCV005257713	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000609937	SCV001927814	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000609937	SCV001975026	benign	not specified		no assertion criteria provided	clinical testing