ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2279T>C (p.Phe760Ser)

dbSNP: rs1949430890
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272620 SCV002556486 likely pathogenic Retinoblastoma 2020-05-05 criteria provided, single submitter clinical testing

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