ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1100+30A>T

gnomAD frequency: 0.00929  dbSNP: rs17880847
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001585904 SCV001157101 benign not provided 2019-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001585904 SCV001811840 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225779 SCV002505057 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001692339 SCV002550881 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290517 SCV002582206 likely benign Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290516 SCV002582769 likely benign Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002290517 SCV002738777 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692339 SCV001906434 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001692339 SCV001972536 benign not specified no assertion criteria provided clinical testing

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