ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)

dbSNP: rs797045033
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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 RCV000191071 SCV000245463 likely pathogenic Osteogenesis imperfecta type I 2014-02-04 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 22-year-old female with IUGR, hearing loss, large fontanel, blue sclerae, large amount of soft tissue in neck, abnormal shaped ears, short stature, strabismic amblyopia with anisometropia, thin membranous bones, osteoporosis, thin skin

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