ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1252-8_1252-7del

dbSNP: rs35587403
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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 RCV002277771 SCV002564767 likely benign Osteogenesis imperfecta 2022-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277772 SCV002565556 likely benign Ehlers-Danlos syndrome 2022-03-01 criteria provided, single submitter clinical testing

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