Submissions for variant NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)

gnomAD frequency: 0.00478  dbSNP: rs143312971

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000145365	SCV000228384	likely benign	not specified	2015-02-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145365	SCV000314192	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001171843	SCV000516903	benign	not provided	2019-04-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001171843	SCV000647815	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625258	SCV000744328	likely benign	Joubert syndrome 17	2015-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625258	SCV001313763	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.
CeGaT Center for Human Genetics Tuebingen	RCV001171843	SCV001334717	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	CPLANE1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001171843	SCV005259806	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000145365	SCV000192444	likely benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001171843	SCV001917565	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001171843	SCV001978184	likely benign	not provided		no assertion criteria provided	clinical testing