ClinVar Miner

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

gnomAD frequency: 0.00155  dbSNP: rs147896487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999001 SCV001155379 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ASAH1: BP4, BS2; ASAH1-AS1: BS2
Mendelics RCV002248735 SCV002517979 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656013 SCV000588289 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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