Submissions for variant NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)

gnomAD frequency: 0.00090  dbSNP: rs141911199

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192922	SCV000246834	uncertain significance	not specified	2015-05-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192922	SCV000314191	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726605	SCV000345784	uncertain significance	not provided	2016-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625259	SCV000457396	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000726605	SCV000531015	uncertain significance	not provided	2025-02-07	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625259	SCV000744329	likely benign	Joubert syndrome 17	2017-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000726605	SCV000834953	likely benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000726605	SCV001800674	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000192922	SCV001925044	benign	not specified		no assertion criteria provided	clinical testing