ClinVar Miner

Submissions for variant NM_006133.3(DAGLA):c.2613dup (p.Ser872fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004526298 SCV005368449 uncertain significance Benign paroxysmal tonic upgaze of childhood with ataxia 2022-01-14 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD, PM2_SUP, PP2_SUP
OMIM RCV004526298 SCV005038970 pathogenic Benign paroxysmal tonic upgaze of childhood with ataxia 2024-05-08 no assertion criteria provided literature only

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