ClinVar Miner

Submissions for variant NM_001394966.1(NEK10):c.1230+5G>C

dbSNP: rs1253689023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001004051 SCV005373820 likely pathogenic Ciliary dyskinesia, primary, 44 2024-09-22 criteria provided, single submitter clinical testing
GeneDx RCV004820139 SCV005440837 likely pathogenic not provided 2024-06-25 criteria provided, single submitter clinical testing Intronic variant directly or indirectly altering the +5 splice site in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31959991)
OMIM RCV001004051 SCV001162784 pathogenic Ciliary dyskinesia, primary, 44 2020-02-24 no assertion criteria provided literature only

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