ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1306-7C>G

gnomAD frequency: 0.00002  dbSNP: rs771232346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001408272 SCV001610269 likely benign Exostoses, multiple, type 2 2024-01-06 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238368 SCV002011598 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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