ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.510C>T (p.Phe170=) (rs747266339)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162571 SCV000212987 likely benign Hereditary cancer-predisposing syndrome 2016-01-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000232684 SCV000288395 likely benign Juvenile polyposis syndrome 2017-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000437337 SCV000527388 likely benign not specified 2017-02-01 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 RCV000162571 SCV000682898 likely benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000232684 SCV000786242 likely benign Juvenile polyposis syndrome 2018-03-26 criteria provided, single submitter clinical testing

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