ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)

dbSNP: rs1907723511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330773 SCV001522565 likely pathogenic Osteogenesis imperfecta type I 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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