ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.676-12T>C

gnomAD frequency: 0.00001  dbSNP: rs1057520681
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720027 SCV000516957 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776553 SCV000912160 likely benign Hereditary cancer-predisposing syndrome 2018-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061652 SCV002492155 likely benign Juvenile polyposis syndrome 2025-01-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002061652 SCV004822639 likely benign Juvenile polyposis syndrome 2023-11-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061652 SCV005404111 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.

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