ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.333+8A>G

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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. RCV004788684 SCV005406930 likely benign Juvenile polyposis syndrome 2024-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV004788684 SCV005766865 likely benign Juvenile polyposis syndrome 2024-04-15 criteria provided, single submitter clinical testing

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