ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.205G>C (p.Asp69His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318956 SCV004022867 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22799562, 23433720, 10881198)
All of Us Research Program, National Institutes of Health RCV004009736 SCV004817115 uncertain significance Juvenile polyposis syndrome 2023-03-04 criteria provided, single submitter clinical testing

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