ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.681G>A (p.Gln227=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004791814 SCV005403669 benign Juvenile polyposis syndrome 2024-08-02 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.

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