ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.853C>T (p.Gln285Ter)

dbSNP: rs1818703974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264016 SCV001442115 likely pathogenic Glycine encephalopathy 2019-01-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001264016 SCV003828309 likely pathogenic Glycine encephalopathy 2022-09-28 criteria provided, single submitter clinical testing

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