ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1790-18dup (rs750022485)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299982 SCV000469756 uncertain significance Mucopolysaccharidosis type 7 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529104 SCV001741989 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573814 SCV001800210 likely benign not provided no assertion criteria provided clinical testing

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