ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1128-5del

gnomAD frequency: 0.00001  dbSNP: rs886038280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245002 SCV000303579 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000632985 SCV000754195 likely benign Retinoblastoma 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319472 SCV002608680 likely benign Hereditary cancer-predisposing syndrome 2022-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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