ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)

dbSNP: rs1060499603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477858 SCV000536875 likely pathogenic Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2016-06-23 no assertion criteria provided research

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