ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.633T>G (p.Thr211=)

gnomAD frequency: 0.00001  dbSNP: rs976434163
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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 RCV001025157 SCV001187292 likely benign Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001025157 SCV001342108 likely benign Hereditary cancer-predisposing syndrome 2019-05-20 criteria provided, single submitter clinical testing
Invitae RCV001495147 SCV001699816 likely benign Li-Fraumeni syndrome 2022-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001025157 SCV002582556 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290555 SCV002582858 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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