ClinVar Miner

Submissions for variant NM_001105.5(ACVR1):c.772A>G (p.Arg258Gly) (rs863224846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198218 SCV000255317 likely pathogenic Progressive myositis ossificans 2012-11-27 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000426913 SCV000505753 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437179 SCV000505754 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only

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