ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.264C>T (p.Ala88=)

dbSNP: rs876660951
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217722 SCV000278780 likely benign Hereditary cancer-predisposing syndrome 2015-10-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000460805 SCV000557367 likely benign Li-Fraumeni syndrome 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001689755 SCV001912582 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000217722 SCV002582267 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288902 SCV002582928 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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