ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.334-4T>G (rs1060504904)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474223 SCV000562747 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571170 SCV000668365 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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