ClinVar Miner

Submissions for variant NM_033116.6(NEK9):c.*13G>A

gnomAD frequency: 0.98559  dbSNP: rs175487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001785436 SCV002026723 benign NEK9-related lethal skeletal dysplasia 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785437 SCV002026724 benign Arthrogryposis, Perthes disease, and upward gaze palsy 2021-09-05 criteria provided, single submitter clinical testing

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