ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.336T>C (p.Asp112=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004788798 SCV005404220 benign Juvenile polyposis syndrome 2024-08-01 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV004788798 SCV005423941 likely benign Juvenile polyposis syndrome 2024-06-17 criteria provided, single submitter clinical testing

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