ClinVar Miner

Submissions for variant NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)

dbSNP: rs121909447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000077847 SCV000045111 pathogenic D-Glyceric aciduria 2010-12-01 no assertion criteria provided literature only
Universitäts-Kinderspital Zürich RCV000077847 SCV000109693 not provided D-Glyceric aciduria no assertion provided not provided

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