ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.377-3C>G

dbSNP: rs774110963
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Total submissions: 1
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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 RCV001175226 SCV001338750 pathogenic Joubert syndrome 16 no assertion criteria provided research

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