ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter)

dbSNP: rs1445826036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989546 SCV001139977 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-05-28 criteria provided, single submitter clinical testing

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