ClinVar Miner

Submissions for variant GRCh37/hg19 12q24.21(chr12:116484240-116564043)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory,CHRU Nancy RCV001352669 SCV001547237 pathogenic Global developmental delay; Generalized hypotonia 2021-03-15 criteria provided, single submitter clinical testing

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