ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.498G>T (p.Gln166His) (rs1553138869)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Biomedicine,Eurac Research RCV000677214 SCV000777889 uncertain significance Early infantile epileptic encephalopathy 18 2018-07-16 no assertion criteria provided research This variant and dbSNP:rs765848129 were observed in a compound-heterozygous state in two affected brothers. The mother was unaffected and carried this variant but not dbSNP:rs765848129, the father and another brother were unaffected and carried dbSNP:rs765848129 but not this variant.

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