ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1395G>A (p.Pro465=) (rs55845713)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428241 SCV000515528 likely benign not specified 2017-08-03 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.
Invitae RCV000463263 SCV000562740 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562816 SCV000668329 likely benign Hereditary cancer-predisposing syndrome 2015-10-12 criteria provided, single submitter clinical testing
Color RCV000562816 SCV000903824 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000562816 SCV000787889 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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