ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.694-15T>C

gnomAD frequency: 0.00003  dbSNP: rs779799840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002199037 SCV002491269 benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738155 SCV004564570 likely benign not provided 2023-11-05 criteria provided, single submitter clinical testing

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