ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.685C>T (p.Leu229Phe)

gnomAD frequency: 0.00001  dbSNP: rs766131342
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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 RCV000535072 SCV000629340 benign Retinoblastoma 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025740 SCV001187987 benign Hereditary cancer-predisposing syndrome 2022-10-21 criteria provided, single submitter clinical testing This alteration is classified as 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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