ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1002+5G>T

dbSNP: rs1907566530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, Polish Mother's Memorial Hospital Research Institute RCV001260273 SCV001244825 likely pathogenic Osteogenesis imperfecta 2020-04-06 criteria provided, single submitter research

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