ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1288-5T>C

gnomAD frequency: 0.38028  dbSNP: rs741758
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176545 SCV000228220 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176545 SCV000308400 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000176545 SCV000728706 benign not specified 2017-05-19 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 RCV001521467 SCV001730819 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657951 SCV001876266 benign Epiphyseal dysplasia, multiple, 3 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521467 SCV005311162 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000176545 SCV001740340 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176545 SCV001809555 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176545 SCV001956424 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000176545 SCV001964596 benign not specified no assertion criteria provided clinical testing

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