ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)

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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 RCV003988614 SCV004803185 likely pathogenic Nijmegen breakage syndrome-like disorder 2023-06-27 criteria provided, single submitter clinical testing

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