ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1790-5del

dbSNP: rs750022485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873537 SCV001015545 benign Mucopolysaccharidosis type 7 2019-12-11 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573011 SCV001798270 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727815 SCV001968616 benign not specified no assertion criteria provided clinical testing

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