ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.324+15C>T

gnomAD frequency: 0.00001  dbSNP: rs371250316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002038510 SCV002312958 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-09-27 criteria provided, single submitter clinical testing
GeneDx RCV002284510 SCV002574547 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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