ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.537-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV005052917 SCV005686383 pathogenic Exostoses, multiple, type 2 2025-01-30 criteria provided, single submitter clinical testing PVS1, PM2_Supporting, PP4_Strong

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