ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.3991delinsAGCCCTACACACTCAAC (p.Glu1331fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Palindrome, Gene Kavoshgaran Aria RCV005055342 SCV005689454 pathogenic Spastic paraplegia, intellectual disability, nystagmus, and obesity 2024-12-17 criteria provided, single submitter clinical testing

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