ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.*1175A>C (rs78378222)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000412103 SCV000407042 benign Li-Fraumeni syndrome 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl RCV000412103 SCV000488853 uncertain significance Li-Fraumeni syndrome 1 2016-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492363 SCV000581112 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000492363 SCV000679746 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
OMIM RCV000029217 SCV000051863 risk factor Basal cell carcinoma, susceptibility to, 7 2011-09-25 no assertion criteria provided literature only

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