ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.376-4A>T

dbSNP: rs1221388024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564076 SCV000665109 likely benign Hereditary cancer-predisposing syndrome 2019-09-05 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 RCV000564076 SCV000691593 likely benign Hereditary cancer-predisposing syndrome 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451701 SCV001655342 likely benign Li-Fraumeni syndrome 2024-12-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564076 SCV002530455 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-19 criteria provided, single submitter curation

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