ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)

dbSNP: rs1559759089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708561 SCV000837678 likely pathogenic Epileptic encephalopathy, infantile or early childhood, 3 2018-04-20 criteria provided, single submitter clinical testing

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