ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)

dbSNP: rs1554648060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616020 SCV000734702 likely pathogenic Glycine encephalopathy no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702691 SCV001931361 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702691 SCV001967787 likely pathogenic not provided no assertion criteria provided clinical testing

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