ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.473T>A (p.Leu158Ter)

dbSNP: rs1952481401
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001257127 SCV001432961 pathogenic Retinoblastoma 2019-06-24 no assertion criteria provided clinical testing

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