ClinVar Miner

Submissions for variant NM_153229.3(TMEM92):c.95+3A>G

dbSNP: rs730882247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162187 SCV000196473 likely pathogenic Global developmental delay; Hydrocephalus; Cerebellar atrophy; Bilateral squint 2014-12-01 no assertion criteria provided research

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