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 RCV001080583 SCV000153827 benign Juvenile polyposis syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131546 SCV000186545 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV001080583 SCV000365651 benign Juvenile polyposis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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 RCV000507545 SCV000602644 benign not specified 2019-04-18 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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