ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.-197G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV004557119 SCV005046222 likely pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:2, UNILATERAL CASES:0, TOTAL CASES:2, PEDIGREES:2. ACMG Codes Applied:PM1, PM2, PP3

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