ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)

gnomAD frequency: 0.00006  dbSNP: rs145871842
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Total submissions: 4
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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 RCV000659342 SCV000781153 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001724120 SCV002129698 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724120 SCV001956872 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724120 SCV001971636 uncertain significance not provided no assertion criteria provided clinical testing

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