ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.373del (p.Cys125fs)

dbSNP: rs1589768027
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985360 SCV001133467 pathogenic not provided 2019-08-14 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic internal patient, and not found in general population data.

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