ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys)

dbSNP: rs397514593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000033013 SCV002519592 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000033013 SCV000056793 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2012-05-01 no assertion criteria provided literature only

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