ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.300C>T (p.Gly100=)

gnomAD frequency: 0.00001  dbSNP: rs751107938
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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 RCV002277980 SCV002565577 uncertain significance Ehlers-Danlos syndrome 2021-09-15 criteria provided, single submitter clinical testing
Invitae RCV003774906 SCV004610233 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-12-09 criteria provided, single submitter clinical testing

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