ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) (rs541666319)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UW Hindbrain Malformation Research Program,University of Washington	RCV000201571	SCV000256486	likely pathogenic	Joubert syndrome 2	2015-02-23	criteria provided, single submitter	research

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