ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.*21A>G (rs111371929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251656 SCV000306941 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339313 SCV000372644 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377550 SCV000372645 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing

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