ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs)

dbSNP: rs2135015566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV002274278 SCV002558835 likely pathogenic Exostoses, multiple, type 2 2022-06-01 criteria provided, single submitter clinical testing

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