ClinVar Miner

Submissions for variant NM_001105.5(ACVR1):c.983G>A (p.Gly328Glu) (rs387906589)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624246 SCV000741279 pathogenic Inborn genetic diseases 2016-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: CANDIDATE: Alteration(s) of Potential Clinical Relevance Detected
Baylor Genetics RCV000022432 SCV000992702 likely pathogenic Progressive myositis ossificans 2018-10-12 criteria provided, single submitter clinical testing
OMIM RCV000022432 SCV000043721 pathogenic Progressive myositis ossificans 2009-03-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434306 SCV000505751 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only

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