ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.759G>A (p.Val253=) (rs117513345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247584 SCV000304644 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000247584 SCV000341516 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Invitae RCV000475714 SCV000557160 benign Tay-Sachs disease 2017-12-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247584 SCV000603955 benign not specified 2018-08-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092608 SCV001249189 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000475714 SCV000733467 likely benign Tay-Sachs disease no assertion criteria provided clinical testing

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