ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.3374+10A>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002949118 SCV003278602 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2023-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898634 SCV004710295 likely benign NEK1-related disorder 2023-01-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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