ClinVar Miner

Submissions for variant NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)

dbSNP: rs1246773873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000779607 SCV001146822 uncertain significance Developmental and epileptic encephalopathy, 75 2019-10-01 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Epileptic encephalopathy, early infantile, 75, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1-Moderate, PP3.
OMIM RCV000779607 SCV000916286 pathogenic Developmental and epileptic encephalopathy, 75 2020-11-25 no assertion criteria provided literature only

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