ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs)

dbSNP: rs1553784980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625589 SCV000746088 pathogenic Fanconi-Bickel syndrome 2017-09-18 no assertion criteria provided clinical testing

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