ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)

gnomAD frequency: 0.00006  dbSNP: rs777265470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680479 SCV000807857 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959357 SCV001106259 likely benign Osteogenesis imperfecta type I 2023-06-16 criteria provided, single submitter clinical testing

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