ClinVar Miner

Submissions for variant NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)

dbSNP: rs1706440222
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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 RCV001090140 SCV001245585 uncertain significance TOMM70-related neurodevelopmental disorder 2020-01-10 criteria provided, single submitter clinical testing Fly data indicates variant is hypomorphic.

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