ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)

dbSNP: rs574801192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001277824 SCV002045532 likely benign GNPTG-mucolipidosis 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277824 SCV001464801 uncertain significance GNPTG-mucolipidosis 2020-04-24 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572923 SCV001798029 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572923 SCV001973265 likely benign not provided no assertion criteria provided clinical testing

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