ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.924G>C (p.Leu308=)

dbSNP: rs786202546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462950 SCV000557350 likely benign Li-Fraumeni syndrome 2024-11-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506600 SCV000602283 uncertain significance not specified 2016-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575062 SCV000664390 likely benign Hereditary cancer-predisposing syndrome 2015-11-27 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.
Color Diagnostics, LLC DBA Color Health RCV000575062 SCV000691665 likely benign Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506600 SCV003844470 likely benign not specified 2023-02-09 criteria provided, single submitter clinical testing

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