ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.388-1G>C

dbSNP: rs2102476204
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Total submissions: 2
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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 RCV001375013 SCV001572301 uncertain significance Neurodevelopmental disorder 2021-03-31 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV003315449 SCV003035496 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research

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