ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.393C>T (p.Asn131=)

dbSNP: rs769270327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183361 SCV001349077 likely benign Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183361 SCV002626046 likely benign Hereditary cancer-predisposing syndrome 2019-01-07 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 RCV005093871 SCV005740976 likely benign Li-Fraumeni syndrome 2024-05-13 criteria provided, single submitter clinical testing

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