ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)

dbSNP: rs1907516553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196899 SCV001367533 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2019-12-19 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3,PP4.
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV003163499 SCV003915603 likely pathogenic Osteogenesis imperfecta type I 2022-04-02 criteria provided, single submitter clinical testing

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