ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.-2G>T (rs7107543)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173234 SCV000224329 benign not specified 2015-01-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173234 SCV000306943 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386157 SCV000372622 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294727 SCV000372623 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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