ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.431-26T>A

gnomAD frequency: 0.06507  dbSNP: rs7920259
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506978 SCV000602643 benign not specified 2019-05-09 criteria provided, single submitter clinical testing
GeneDx RCV001613327 SCV001840356 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000506978 SCV002550404 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316654 SCV004016725 benign Juvenile polyposis syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613327 SCV005317626 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000506978 SCV000691798 benign not specified no assertion criteria provided clinical testing

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