ClinVar Miner

Submissions for variant NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)

dbSNP: rs148319220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000056278 SCV005038856 uncertain significance Microcornea-myopic chorioretinal atrophy 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000056278 SCV000087450 pathogenic Microcornea-myopic chorioretinal atrophy 2013-09-01 no assertion criteria provided literature only

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