Submissions for variant NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)

gnomAD frequency: 0.00635  dbSNP: rs79935028

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145363	SCV000314187	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625260	SCV000457402	benign	Joubert syndrome 17	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000145363	SCV000729637	benign	not specified	2017-02-07	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625260	SCV000744330	likely benign	Joubert syndrome 17	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878144	SCV001021003	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492526	SCV002799028	likely benign	Orofaciodigital syndrome type 6; Joubert syndrome 17	2021-12-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145363	SCV000192442	likely benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000145363	SCV001925445	benign	not specified		no assertion criteria provided	clinical testing