ClinVar Miner

Submissions for variant GRCh38/hg38 2q31.2(chr2:178655529-178662529)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV003991294 SCV004808621 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-04-04 criteria provided, single submitter clinical testing

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