ClinVar Miner

Submissions for variant NM_001256182:c.7545delG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000235225 SCV000292423 pathogenic KBG syndrome 2016-01-10 no assertion criteria provided research KBG phenotype

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