ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2588-12_2588-11del

dbSNP: rs374055570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616023 SCV000729133 benign not specified 2017-04-11 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.
Genetic Services Laboratory, University of Chicago RCV000616023 SCV002068310 benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV002066677 SCV002403152 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736855 SCV004563351 benign not provided 2023-05-02 criteria provided, single submitter clinical testing

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