ClinVar Miner

Submissions for variant NM_006854.4(KDELR2):c.34C>G (p.His12Asp)

dbSNP: rs1785976222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001270696 SCV001451427 pathogenic Osteogenesis imperfecta, type 21 2020-12-18 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573365 SCV001799142 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573365 SCV001807010 uncertain significance not provided no assertion criteria provided clinical testing

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