ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1080+20G>A

gnomAD frequency: 0.00008  dbSNP: rs192292678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606398 SCV000714868 likely benign not specified 2017-12-18 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.
Invitae RCV002062832 SCV002491364 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2023-11-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117378 SCV003799448 likely benign not provided 2022-03-15 criteria provided, single submitter clinical testing

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