ClinVar Miner

Submissions for variant NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) (rs1555354198)

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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 RCV000731602 SCV000859442 likely pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000731602 SCV001246127 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000731602 SCV001447719 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale RCV000577900 SCV000583971 pathogenic Shwachman-Diamond syndrome 1 2017-07-14 no assertion criteria provided clinical testing
OMIM RCV000999506 SCV001156153 pathogenic Neutropenia, severe congenital, 8, autosomal dominant 2020-01-31 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000999506 SCV001469264 pathogenic Neutropenia, severe congenital, 8, autosomal dominant 2020-06-07 no assertion criteria provided clinical testing

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