ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)

dbSNP: rs121908297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004539 SCV000024713 pathogenic Gaucher disease type I 1991-07-01 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572837 SCV001797835 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572837 SCV001974844 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001572837 SCV001978672 uncertain significance not provided no assertion criteria provided clinical testing

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