ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.1954C>T (p.Arg652Cys)

gnomAD frequency: 0.00002  dbSNP: rs752066503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758493 SCV001995429 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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