ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1283del (p.Pro428fs)

dbSNP: rs1965287605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV001249580 SCV001423135 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2020-03-30 no assertion criteria provided clinical testing In compound heterozygous form with Likely pathogenic variant NM_001083614.2:c.319C>T

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