ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2049T>C (p.Leu683=)

gnomAD frequency: 0.00001  dbSNP: rs1048847950
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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 RCV000864548 SCV001005360 likely benign Retinoblastoma 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014234 SCV001174919 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 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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