ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2490-45A>G

gnomAD frequency: 0.00540  dbSNP: rs4151610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989139 SCV001139340 likely benign Retinoblastoma 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002067583 SCV002497669 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing RB1: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000989139 SCV004283559 benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002067583 SCV005215623 likely benign not provided criteria provided, single submitter not provided

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