ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.672+48G>A

dbSNP: rs17884607
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557604 SCV001779391 likely benign not provided 2018-07-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256819 SCV002532702 benign Hereditary cancer-predisposing syndrome 2021-03-13 criteria provided, single submitter curation
Genome-Nilou Lab RCV002256819 SCV002582544 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290722 SCV002582846 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321853 SCV004026688 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001557604 SCV004141814 benign not provided 2024-06-01 criteria provided, single submitter clinical testing TP53: BS1, BS2

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