ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.103+16T>G

gnomAD frequency: 0.00001  dbSNP: rs548069648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002164936 SCV002333103 benign Osteogenesis imperfecta type I 2024-07-12 criteria provided, single submitter clinical testing

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