ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)

gnomAD frequency: 0.00348  dbSNP: rs77706858
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175423 SCV000226900 benign not specified 2014-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175423 SCV000308329 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000954924 SCV000529351 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26770814, 24828792, 27353947)
Labcorp Genetics (formerly Invitae), Labcorp RCV000954924 SCV001101591 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000987736 SCV001137175 likely benign Epiphyseal dysplasia, multiple, 6 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000954924 SCV001143281 likely benign not provided 2019-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954924 SCV002497423 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing COL9A1: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277355 SCV002566386 likely benign Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954924 SCV005222171 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000954924 SCV001797603 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954924 SCV001969093 likely benign not provided no assertion criteria provided clinical testing

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