ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596832 SCV000707979 likely pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004681 SCV001164137 likely pathogenic Early infantile epileptic encephalopathy 8 2018-04-16 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001004681 SCV001245204 likely pathogenic Early infantile epileptic encephalopathy 8 2020-02-14 criteria provided, single submitter clinical testing

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