ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)

gnomAD frequency: 0.00015  dbSNP: rs775923357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456916 SCV001660709 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001456916 SCV001793575 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501602 SCV002811285 likely benign 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 2021-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540366 SCV004774574 likely benign COL2A1-related disorder 2022-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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