ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs) (rs749330477)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000001931	SCV000022089	pathogenic	D-2-hydroxyglutaric aciduria 1	2005-09-01	no assertion criteria provided	literature only

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