ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) (rs569734777)

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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 RCV000173235 SCV000224330 uncertain significance not provided 2014-05-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345023 SCV000372624 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391281 SCV000372625 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000173235 SCV001000780 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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