ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.676-6A>G

dbSNP: rs186999445
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463815 SCV000562763 likely benign Juvenile polyposis syndrome 2024-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000606336 SCV000725126 likely benign not specified 2017-11-28 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.
Color Diagnostics, LLC DBA Color Health RCV001186491 SCV001352929 likely benign Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478042 SCV004222533 likely benign not provided 2023-03-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000463815 SCV005406808 likely benign Juvenile polyposis syndrome 2024-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health RCV000463815 SCV005424041 likely benign Juvenile polyposis syndrome 2024-07-10 criteria provided, single submitter clinical testing

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