ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.592dup (p.His198fs)

dbSNP: rs1555762070
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000598849 SCV000710837 not provided Ethylmalonic encephalopathy no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000598849 SCV001133147 likely pathogenic Ethylmalonic encephalopathy 2019-09-26 no assertion criteria provided clinical testing

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