ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1323T>C (p.Ile441=)

gnomAD frequency: 0.00001  dbSNP: rs1952832419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416624 SCV001618807 likely benign Retinoblastoma 2023-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384614 SCV002689061 likely benign Hereditary cancer-predisposing syndrome 2021-01-27 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.
All of Us Research Program, National Institutes of Health RCV001416624 SCV004844658 likely benign Retinoblastoma 2023-05-16 criteria provided, single submitter clinical testing

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