ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1017C>G (p.Ala339=) (rs780130011)

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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 RCV000213258 SCV000276409 likely benign Hereditary cancer-predisposing syndrome 2015-06-10 criteria provided, single submitter clinical testing
Invitae RCV000538626 SCV000632678 likely benign Juvenile polyposis syndrome 2017-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000600701 SCV000717697 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000679545 SCV000806593 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing

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