ClinVar Miner

Submissions for variant NM_033116.6(NEK9):c.2042G>A (p.Arg681His)

gnomAD frequency: 0.00002  dbSNP: rs142859694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987473 SCV004804734 uncertain significance NEK9-related lethal skeletal dysplasia 2024-03-17 criteria provided, single submitter research
OMIM RCV000234928 SCV000292251 pathogenic Arthrogryposis, Perthes disease, and upward gaze palsy 2021-03-01 no assertion criteria provided literature only

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