ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.270T>C (p.Gly90=)

dbSNP: rs1593434172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016249 SCV001177185 likely benign Hereditary cancer-predisposing syndrome 2019-06-24 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.
Invitae RCV001478528 SCV001682799 likely benign Retinoblastoma 2021-06-05 criteria provided, single submitter clinical testing

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