Submissions for variant NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)

gnomAD frequency: 0.00760  dbSNP: rs113941736

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116677	SCV000150641	benign	not specified	2015-01-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514927	SCV000609553	likely benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Invitae	RCV001084476	SCV000771866	benign	Joubert syndrome 15	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000514927	SCV000977462	benign	not provided	2018-04-18	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.
Illumina Laboratory Services, Illumina	RCV001084476	SCV001320424	likely benign	Joubert syndrome 15	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000514927	SCV004161073	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CEP41: BS1, BS2