ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)

gnomAD frequency: 0.05849  dbSNP: rs17544885
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081534 SCV000113465 benign not specified 2013-03-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625336 SCV000448560 benign Short-rib thoracic dysplasia 6 with or without polydactyly 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 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.
GeneDx RCV000081534 SCV000516427 benign not specified 2016-05-09 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625336 SCV000744993 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811383 SCV000885824 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Invitae RCV000625336 SCV001719485 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000081534 SCV001918260 benign not specified no assertion criteria provided clinical testing

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