ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) (rs62346982)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000544231 SCV000604130 benign Common variable immunodeficiency 8, with autoimmunity 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV000544231 SCV000652633 benign Common variable immunodeficiency 8, with autoimmunity 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000508516 SCV000709547 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659001 SCV000780804 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000544231 SCV000782749 uncertain significance Common variable immunodeficiency 8, with autoimmunity 2017-11-15 criteria provided, single submitter clinical testing

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