ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321996 SCV004025954 pathogenic not provided 2023-01-06 criteria provided, single submitter clinical testing PM1, PP3, PM5, PP4, PS4, PM2_SUP

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