ClinVar Miner

Submissions for variant NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)

gnomAD frequency: 0.00001  dbSNP: rs730882153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623651 SCV000740683 likely pathogenic Inborn genetic diseases 2016-06-28 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000162033 SCV001146824 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.
OMIM RCV000162033 SCV000211960 pathogenic Developmental and epileptic encephalopathy, 75 2015-01-01 no assertion criteria provided literature only

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