ClinVar Miner

Submissions for variant NM_001365308.1(BMPER):c.410T>A (p.Val137Asp) (rs1554300601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Danek Gertner Institute of Human Genetics,Sheba Medical Center RCV000677141 SCV000792981 likely pathogenic Diaphanospondylodysostosis 2018-04-15 no assertion criteria provided clinical testing
OMIM RCV000677141 SCV000999201 pathogenic Diaphanospondylodysostosis 2019-11-26 no assertion criteria provided literature only

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