ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.500G>A (p.Trp167Ter)

dbSNP: rs1294471020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277847 SCV002565034 uncertain significance Osteogenesis imperfecta 2019-04-01 criteria provided, single submitter clinical testing

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