ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)

dbSNP: rs1587908683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992429 SCV004809470 likely pathogenic Glycine encephalopathy 1 2024-04-04 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985036 SCV001132971 uncertain significance Glycine encephalopathy 2019-08-25 no assertion criteria provided clinical testing

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