ClinVar Miner

Submissions for variant NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly) (rs104894722)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013356 SCV000033603 pathogenic Diaphyseal dysplasia 2004-05-15 no assertion criteria provided literature only
GeneReviews RCV000013356 SCV000055716 pathogenic Diaphyseal dysplasia 2015-03-05 no assertion criteria provided literature only

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