ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.675C>T (p.Pro225=)

dbSNP: rs1250981237
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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 RCV002277848 SCV002565035 uncertain significance Osteogenesis imperfecta 2019-11-01 criteria provided, single submitter clinical testing

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