ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) (rs55992440)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119191 SCV000153928 benign Juvenile polyposis syndrome 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000212146 SCV000167200 benign not specified 2014-02-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000123857 SCV000213123 likely benign Hereditary cancer-predisposing syndrome 2014-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000119191 SCV000487813 likely benign Juvenile polyposis syndrome 2015-11-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212146 SCV000600226 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Color RCV000123857 SCV000682904 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212146 SCV000806606 benign not specified 2017-03-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212146 SCV000861274 benign not specified 2018-05-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758775 SCV000887606 benign not provided 2017-04-28 criteria provided, single submitter clinical testing

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