ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.*3336del

gnomAD frequency: 0.12180  dbSNP: rs200420290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275413 SCV000480182 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275413 SCV000480183 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2016-06-14 criteria provided, single submitter clinical testing

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