ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1228T>G (p.Cys410Gly)

dbSNP: rs2145901302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730047 SCV001976811 likely pathogenic Multiple epiphyseal dysplasia type 1 2021-10-05 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP3

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