ClinVar Miner

Submissions for variant NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val)

gnomAD frequency: 0.00001  dbSNP: rs1583476115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991206 SCV001142583 uncertain significance EIF2AK1-related disorder 2016-09-06 criteria provided, single submitter clinical testing
OMIM RCV001093631 SCV001250823 pathogenic Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 2020-05-13 no assertion criteria provided literature only

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