ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.336del (p.Ile112fs) (rs386833422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000049350 SCV000744999 pathogenic Aspartylglucosaminuria 2017-05-31 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049350 SCV000081782 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000049350 SCV000734329 likely pathogenic Aspartylglucosaminuria no assertion criteria provided clinical testing

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