ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.376-17C>T

gnomAD frequency: 0.00001  dbSNP: rs376713749
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428714 SCV000514937 benign not specified 2015-08-04 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.
Color Diagnostics, LLC DBA Color Health RCV000580424 SCV000686734 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061545 SCV002485716 likely benign Li-Fraumeni syndrome 2024-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000580424 SCV002582245 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289548 SCV002582906 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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