ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.728del (p.Pro243fs)

dbSNP: rs2134985434
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001644551 SCV001860341 pathogenic Exostoses, multiple, type 2 2021-09-14 no assertion criteria provided clinical testing Frameshift variant absent in gnomAD and found in 2 families with multiple osteochondromas in our laboratory

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