ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.141+4A>G

dbSNP: rs1131692290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics RCV000496031 SCV000584129 likely pathogenic Aniridia 1 no assertion criteria provided research

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