ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) (rs11528010)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131909 SCV000186964 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120253 SCV000310101 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309392 SCV000365642 benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000131909 SCV000537343 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120253 SCV000602641 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV000034703 SCV000632720 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034703 SCV000043146 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120253 SCV000084403 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000120253 SCV000691796 benign not specified no assertion criteria provided clinical testing

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