ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.12A>G (p.Leu4=) (rs772729006)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197505 SCV000253402 likely benign Juvenile polyposis syndrome 2015-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574220 SCV000675952 likely benign Hereditary cancer-predisposing syndrome 2017-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574220 SCV000906000 likely benign Hereditary cancer-predisposing syndrome 2017-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780965 SCV000918661 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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