ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.672+15T>C

gnomAD frequency: 0.00004  dbSNP: rs140756213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583652 SCV000691608 likely benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000601851 SCV000729502 likely benign not specified 2017-03-10 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.
Counsyl RCV000663274 SCV000786507 likely benign Li-Fraumeni syndrome 1 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065122 SCV002346510 likely benign Li-Fraumeni syndrome 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000583652 SCV002582547 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000663274 SCV002582849 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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