ClinVar Miner

Submissions for variant NM_001235.4(SERPINH1):c.1214G>A (p.Arg405His) (rs781125078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656724 SCV000777907 uncertain significance Osteogenesis imperfecta type 10 2018-05-24 no assertion criteria provided clinical testing The observed variant c.1214G>A (p.Arg405His) is not reported in the 1000 Genomes database and has a minor allele frequency of 0.0008% in the ExAC database. The in silico prediction of the given variant is damaging by MutationTaster2, SIFT, and LRT. It is predicted as benign by PolyPhen2.

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