Submissions for variant NM_001199397.3(NEK1):c.1081-8dup

dbSNP: rs398124255

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000297270	SCV000448568	likely benign	Short rib-polydactyly syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000081533	SCV000728830	benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625338	SCV000744996	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625338	SCV001719486	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000081533	SCV002058059	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000081533	SCV000113464	uncertain significance	not provided	2013-04-11	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000081533	SCV001797717	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000507755	SCV001923006	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000507755	SCV001963719	benign	not specified		no assertion criteria provided	clinical testing