ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) (rs886042009)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660367 SCV000782438 uncertain significance Achondrogenesis, type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Osteoarthritis with mild chondrodysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic lethal skeletal dysplasia Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia; Czech dysplasia metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Multiple epiphyseal dysplasia 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, stanescu type 2016-05-09 criteria provided, single submitter clinical testing

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