ClinVar Miner

Submissions for variant GRCh37/hg19 3q29(chr3:193343827-194599635)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003329547 SCV004036133 likely pathogenic Autosomal dominant optic atrophy classic form 2023-01-31 criteria provided, single submitter clinical testing

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