ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.540C>A (p.Cys180Ter)

dbSNP: rs1843501165
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269730 SCV001449945 pathogenic not provided 2019-04-24 criteria provided, single submitter clinical testing

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