ClinVar Miner

Submissions for variant NM_005918.4(MDH2):c.4C>G (p.Leu2Val)

dbSNP: rs1797376152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331492 SCV001523536 uncertain significance Developmental and epileptic encephalopathy, 51 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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