ClinVar Miner

Submissions for variant NM_001904.4:c.1_1081del

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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 Goettingen RCV002305423 SCV002588754 likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2022-11-03 no assertion criteria provided clinical testing

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