ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg)

dbSNP: rs767133394
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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 RCV001331591 SCV001523662 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-04-19 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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