ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.486+2T>G

dbSNP: rs2115877489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277782 SCV002564797 likely pathogenic Osteogenesis imperfecta 2019-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277783 SCV002565589 likely pathogenic Ehlers-Danlos syndrome 2019-06-01 criteria provided, single submitter clinical testing

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