ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.958-1G>C

dbSNP: rs72645352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989948 SCV001140692 pathogenic Osteogenesis imperfecta type I 2019-05-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279683 SCV002564756 likely pathogenic Osteogenesis imperfecta 2020-07-22 criteria provided, single submitter clinical testing

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