ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr)

gnomAD frequency: 0.00001  dbSNP: rs1208990609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310378 SCV001500150 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000656120 SCV000599776 pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis 2017-09-14 no assertion criteria provided research

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