ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) (rs2228006)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121840 SCV000203315 benign not specified 2018-02-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121840 SCV000540064 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Frequency
IntelligeneCG RCV000515611 SCV000611717 benign Hereditary nonpolyposis colorectal cancer type 4 2017-08-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121840 SCV000806183 benign not specified 2016-10-11 criteria provided, single submitter clinical testing
ITMI RCV000121840 SCV000086038 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121840 SCV000691969 benign not specified no assertion criteria provided clinical testing

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