ClinVar Miner

Submissions for variant NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs)

dbSNP: rs2147053098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374959 SCV001572247 likely pathogenic Neurodevelopmental disorder 2020-12-11 criteria provided, single submitter clinical testing

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