ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.2370+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004784877 SCV005397088 uncertain significance Spastic paraplegia, intellectual disability, nystagmus, and obesity 2023-09-01 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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