ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1317C>T (p.Val439=)

gnomAD frequency: 0.00001  dbSNP: rs1952832303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001407427 SCV001609403 likely benign Retinoblastoma 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384595 SCV002694749 likely benign Hereditary cancer-predisposing syndrome 2020-11-03 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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