ClinVar Miner

Submissions for variant NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) (rs121909448)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000023821 SCV000746317 likely pathogenic Deficiency of glycerate kinase 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000023821 SCV000045112 pathogenic Deficiency of glycerate kinase 2010-12-01 no assertion criteria provided literature only
Universitäts-Kinderspital Zürich RCV000023821 SCV000109694 not provided Deficiency of glycerate kinase no assertion provided not provided

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