ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) (rs534886444)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000143817 SCV000780944 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000988269 SCV001137924 benign Amyotrophic lateral sclerosis type 4 2019-05-28 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143817 SCV000188710 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Inherited Neuropathy Consortium RCV000790205 SCV000929597 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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