Submissions for variant NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)

gnomAD frequency: 0.00645  dbSNP: rs143147192

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177809	SCV000229743	benign	not specified	2014-10-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177809	SCV000314207	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625256	SCV000457371	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.
GeneDx	RCV000177809	SCV000516366	benign	not specified	2016-05-12	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	RCV000625256	SCV000744323	likely benign	Joubert syndrome 17	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054102	SCV002430423	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054102	SCV002544940	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CPLANE1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002054102	SCV005259799	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000177809	SCV001923123	benign	not specified		no assertion criteria provided	clinical testing