ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1389+5G>C

dbSNP: rs1131690859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466580 SCV002761835 likely pathogenic Retinoblastoma 2022-07-28 criteria provided, single submitter clinical testing
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV000786845 SCV000925742 not provided not provided no assertion provided in vitro

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