ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV003227551 SCV003923329 likely pathogenic Developmental and epileptic encephalopathy, 8 2023-05-09 criteria provided, single submitter clinical testing

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