ClinVar Miner

Submissions for variant NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) (rs147896487)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999001 SCV001155379 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656013 SCV000588289 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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