ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer) (rs1336484333)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics,Ege University RCV000790406 SCV000925644 likely pathogenic Xeroderma pigmentosum, group E, DDB-negative subtype 2019-05-15 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268443 SCV001447380 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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