ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.6049G>T (p.Glu2017Ter)

dbSNP: rs2141611557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001775500 SCV002014036 pathogenic Osteochondritis dissecans 2019-06-20 criteria provided, single submitter clinical testing

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