ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) (rs66527965)

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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 RCV000626590 SCV000747291 pathogenic Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormality of the pinna; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Fractures of the long bones; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000018867 SCV000039150 pathogenic Osteogenesis imperfecta, recessive perinatal lethal 1993-01-01 no assertion criteria provided literature only

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