Submissions for variant NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)

gnomAD frequency: 0.00048  dbSNP: rs147588579

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000945598	SCV000715086	likely benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26096313)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000945598	SCV001091634	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152543	SCV001313761	uncertain significance	Joubert syndrome 17	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000945598	SCV001334716	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CPLANE1: BP4, BS2
Revvity Omics, Revvity	RCV000945598	SCV003829940	uncertain significance	not provided	2022-06-13	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000945598	SCV001797743	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000945598	SCV001968947	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927959	SCV004752488	benign	CPLANE1-related disorder	2019-07-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).