ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1041A>T (p.Thr347=)

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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. RCV004789006 SCV005407198 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004789006 SCV005755646 likely benign Juvenile polyposis syndrome 2024-05-06 criteria provided, single submitter clinical testing

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