Submissions for variant NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)

gnomAD frequency: 0.00560  dbSNP: rs55740606

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000878506	SCV000448538	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878506	SCV001021423	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2024-01-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001558620	SCV001474547	benign	not provided	2020-05-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001558620	SCV001780610	likely benign	not provided	2021-10-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821059	SCV002064868	benign	not specified	2017-12-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278573	SCV002566940	benign	Connective tissue disorder	2022-02-10	criteria provided, single submitter	clinical testing