ClinVar Miner

Submissions for variant NM_005984.5(SLC25A1):c.821+1G>A

dbSNP: rs781974501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850394 SCV000992583 pathogenic 2-hydroxyglutaric aciduria 2019-07-23 criteria provided, single submitter research ACMG codes: PVS1, PM2, PM3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813144 SCV005438285 pathogenic Myasthenic syndrome, congenital, 23, presynaptic 2024-12-18 criteria provided, single submitter clinical testing

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