ClinVar Miner

Submissions for variant NM_001711.6(BGN):c.908A>C (p.Gln303Pro)

dbSNP: rs886037824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000412532 SCV002025497 uncertain significance Meester-Loeys syndrome 2021-03-01 criteria provided, single submitter research PM2, PM8
Centre of Medical Genetics, University of Antwerp RCV000256212 SCV000266569 pathogenic Familial thoracic aortic aneurysm and aortic dissection no assertion criteria provided research
OMIM RCV000412532 SCV000490223 pathogenic Meester-Loeys syndrome 2017-05-10 no assertion criteria provided literature only

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