ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1267G>A (p.Ala423Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039058 SCV005662064 uncertain significance Mohr syndrome; Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 2024-03-26 criteria provided, single submitter clinical testing

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