ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1089A>C (p.Leu363=)

dbSNP: rs863224393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482060 SCV001686420 likely benign Juvenile polyposis syndrome 2021-09-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001482060 SCV005407114 benign Juvenile polyposis syndrome 2024-08-06 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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