ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1166+19C>T

dbSNP: rs1057522268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421508 SCV000526917 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059568 SCV002438641 likely benign Juvenile polyposis syndrome 2024-09-15 criteria provided, single submitter clinical testing

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