ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.969G>C (p.Leu323=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387011 SCV002695182 likely benign Hereditary cancer-predisposing syndrome 2021-11-22 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.
Ayesha Lab, University of the Punjab RCV003326163 SCV004032445 benign Acute myeloid leukemia no assertion criteria provided clinical testing

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