ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) (rs199476087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165949 SCV000216705 likely pathogenic Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
OMIM RCV000008717 SCV000028926 pathogenic Juvenile polyposis syndrome 2001-10-01 no assertion criteria provided literature only

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