ClinVar Miner

Submissions for variant NP_004230.2(TRIP11):p.Trp1224Ter

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005844 SCV000026026 pathogenic Achondrogenesis, type IA 2010-01-21 no assertion criteria provided literature only

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