ClinVar Miner

Submissions for variant NM_000546.5(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
Ambry Genetics RCV000492363 SCV000581112 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000412103 SCV000488853 uncertain significance Li-Fraumeni syndrome 1 2016-07-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294347 SCV000407042 likely benign Li-Fraumeni syndrome 2016-06-14 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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