ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.96+12G>C

dbSNP: rs779577884
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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 RCV000582066 SCV000691668 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530809 SCV002951221 likely benign Li-Fraumeni syndrome 2024-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582066 SCV004849327 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-06 criteria provided, single submitter clinical testing The c.96+12G>C intronic alteration consists of a G to C substitution 2 nucleotides after coding exon 2 in the TP53 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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