ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)

gnomAD frequency: 0.00001  dbSNP: rs371440147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881342 SCV002154802 benign not provided 2023-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482673 SCV002778988 uncertain significance Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 2022-01-03 criteria provided, single submitter clinical testing

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