ClinVar Miner

Submissions for variant NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787747 SCV000926752 pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research

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