ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1398A>C (p.Ser466=) (rs56410735)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570363 SCV000668299 likely benign Hereditary cancer-predisposing syndrome 2017-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000570363 SCV000688239 likely benign Hereditary cancer-predisposing syndrome 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000635494 SCV000756908 benign Juvenile polyposis syndrome 2017-12-01 criteria provided, single submitter clinical testing

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