Submissions for variant NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)

gnomAD frequency: 0.00495  dbSNP: rs149313666

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145369	SCV000192448	uncertain significance	Joubert syndrome 17	2014-06-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248133	SCV000314199	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248133	SCV000338569	benign	not specified	2016-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000145369	SCV000457385	likely benign	Joubert syndrome 17	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000430074	SCV000511346	likely benign	not provided	2017-01-31	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000430074	SCV000647818	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000248133	SCV000729000	benign	not specified	2017-08-11	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 Diagnostics Laboratory, University Medical Center Utrecht	RCV000145369	SCV000743217	benign	Joubert syndrome 17	2014-10-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000430074	SCV004160914	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CPLANE1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000430074	SCV001799834	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000248133	SCV001918486	benign	not specified		no assertion criteria provided	clinical testing