ClinVar Miner

Submissions for variant NM_001244810.1:c.(?_181-50)_(282+50_?)del

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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 RCV001706922 SCV001934507 uncertain significance Intellectual disability-severe speech delay-mild dysmorphism syndrome 2021-04-01 criteria provided, single submitter clinical testing

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