ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)

gnomAD frequency: 0.00654  dbSNP: rs145704340
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613592 SCV000728853 benign not specified 2017-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000971588 SCV001119243 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000971588 SCV001473845 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279431 SCV002567216 benign Connective tissue disorder 2021-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491291 SCV002795504 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 2021-11-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000613592 SCV001809508 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000613592 SCV001925382 benign not specified no assertion criteria provided clinical testing

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