ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) (rs35572415)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000755476 SCV000153827 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131546 SCV000186545 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000339445 SCV000365651 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000131546 SCV000537376 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507545 SCV000600212 benign not specified 2016-08-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755476 SCV000602644 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000507545 SCV000806594 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755476 SCV000888816 benign not provided 2016-08-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131546 SCV000787886 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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