ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.294G>A (p.Leu98=)

dbSNP: rs2138083659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485908 SCV001690357 likely benign Retinoblastoma 2019-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439166 SCV002752515 likely benign Hereditary cancer-predisposing syndrome 2022-09-04 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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