ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2836-17C>T

gnomAD frequency: 0.00014  dbSNP: rs370073620
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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 RCV000659379 SCV000781190 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066957 SCV002448425 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-13 criteria provided, single submitter clinical testing

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