ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.497C>G (p.Ser166Ter)

dbSNP: rs1555526101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005367551 SCV005918330 pathogenic Familial cancer of breast; Li-Fraumeni syndrome 1 2023-09-22 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785317 SCV000923885 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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