ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2525dup (p.Ala844fs)

dbSNP: rs1114167392
Minimum review status: Collection method:
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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 RCV002277891 SCV002565159 likely pathogenic Osteogenesis imperfecta 2020-11-18 criteria provided, single submitter clinical testing

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