Submissions for variant NM_001199397.3(NEK1):c.2765-20G>A

gnomAD frequency: 0.79844  dbSNP: rs7680152

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081535	SCV000113466	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000081535	SCV000516282	benign	not specified	2016-03-21	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	RCV000607549	SCV000743656	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2016-07-26	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000607549	SCV000744991	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000607549	SCV002026707	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV000607549	SCV002405326	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607549	SCV000734323	benign	Short-rib thoracic dysplasia 6 with or without polydactyly		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081535	SCV001919484	benign	not specified		no assertion criteria provided	clinical testing