ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.920-17C>A

gnomAD frequency: 0.00006  dbSNP: rs911934766
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584286 SCV000691664 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001683597 SCV001473331 likely benign not provided 2019-09-13 criteria provided, single submitter clinical testing
GeneDx RCV001683597 SCV001901610 benign not provided 2015-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061962 SCV002411548 likely benign Li-Fraumeni syndrome 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000584286 SCV002582500 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289877 SCV002582801 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492112 SCV004239794 uncertain significance Breast and/or ovarian cancer 2022-07-15 criteria provided, single submitter clinical testing

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