ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1474-10T>C (rs369633360)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204509 SCV000262377 likely benign Juvenile polyposis syndrome 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000435902 SCV000512269 benign not specified 2015-07-14 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.
Color RCV000579402 SCV000682871 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759478 SCV000888820 likely benign not provided 2017-11-17 criteria provided, single submitter clinical testing

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