ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.-267-9T>C

gnomAD frequency: 0.00001  dbSNP: rs1057520240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434389 SCV000512260 likely benign not specified 2017-12-29 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.
Sema4, Sema4 RCV002258885 SCV002528592 likely benign Hereditary cancer-predisposing syndrome 2021-10-11 criteria provided, single submitter curation

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