ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.618C>A (p.Gly206=)

gnomAD frequency: 0.00066  dbSNP: rs373174833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842449 SCV000984471 likely benign not provided 2018-04-20 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 RCV001078647 SCV001045901 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2023-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000842449 SCV004699878 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing NEK1: BP4, BP7

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