ClinVar Miner

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

dbSNP: rs35587403
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696242 SCV001915874 benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276816 SCV002564766 benign Osteogenesis imperfecta 2022-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276817 SCV002565555 benign Ehlers-Danlos syndrome 2022-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579958 SCV001809170 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579958 SCV001933008 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001579958 SCV001962710 benign not specified no assertion criteria provided clinical testing

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