ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.921G>A (p.Leu307=)

dbSNP: rs1843622524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182655 SCV001348169 likely benign Hereditary cancer-predisposing syndrome 2019-07-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004789431 SCV005404435 benign Juvenile polyposis syndrome 2024-08-05 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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