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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034703 SCV000602641 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131909 SCV000186964 benign Hereditary cancer-predisposing syndrome 2014-11-19 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.
Color RCV000131909 SCV000537343 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
ITMI RCV000120253 SCV000084403 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000309392 SCV000365642 benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525840 SCV000632720 benign Juvenile polyposis syndrome 2017-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000120253 SCV000691796 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000120253 SCV000310101 benign not specified criteria provided, single submitter clinical testing

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