ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1876-10C>T

gnomAD frequency: 0.00033  dbSNP: rs370308401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952653 SCV001099170 benign Osteogenesis imperfecta type I 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001593147 SCV001826322 likely benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279663 SCV002565481 likely benign Ehlers-Danlos syndrome 2020-06-01 criteria provided, single submitter clinical testing

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