ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.607-3T>C

gnomAD frequency: 0.07330  dbSNP: rs55679731
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000625339 SCV000448576 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.
GeneDx RCV000442960 SCV000516414 benign not specified 2016-06-29 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 RCV000625339 SCV000744997 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000625339 SCV001731545 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625339 SCV002026709 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2021-09-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000442960 SCV001920740 benign not specified no assertion criteria provided clinical testing

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