ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.790C>G (p.Leu264Val)

dbSNP: rs1555503379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625893 SCV000746472 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2017-12-03 criteria provided, single submitter clinical testing

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