ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1131T>C (p.Thr377=)

dbSNP: rs1414284893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616788 SCV000724907 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV001310691 SCV001500595 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064176 SCV002415206 likely benign Retinoblastoma 2021-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325169 SCV002609244 likely benign Hereditary cancer-predisposing syndrome 2021-06-23 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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