ClinVar Miner

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

dbSNP: rs750022485
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529104 SCV001971554 benign not specified no assertion criteria provided clinical testing

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