ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)

dbSNP: rs1057519394
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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 RCV000417039 SCV000485009 pathogenic Christianson syndrome no assertion criteria provided clinical testing

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