ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)

gnomAD frequency: 0.00006  dbSNP: rs371864924
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659340 SCV000781151 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001572568 SCV001797232 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001572568 SCV002267281 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572568 SCV001955248 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572568 SCV001975591 uncertain significance not provided no assertion criteria provided clinical testing

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