ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2142del (p.Gln714fs)

dbSNP: rs2109139435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001375870 SCV001572798 likely pathogenic Autosomal dominant optic atrophy classic form 2021-02-19 criteria provided, single submitter clinical testing

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