ClinVar Miner

Submissions for variant NM_130797.4(DPP6):c.627+21101A>G

gnomAD frequency: 0.00365  dbSNP: rs117574002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988022 SCV001137569 uncertain significance Intellectual disability, autosomal dominant 33 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001729776 SCV004159324 benign not provided 2024-08-01 criteria provided, single submitter clinical testing DPP6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001729776 SCV005195747 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001729776 SCV001978799 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729777 SCV001979532 benign not specified no assertion criteria provided clinical testing

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