ClinVar Miner

Submissions for variant NM_001493.3(GDI1):c.208C>T (p.Arg70Ter)

dbSNP: rs121434608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012393 SCV000032627 pathogenic Intellectual disability, X-linked 41 1998-06-01 no assertion criteria provided literature only

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