ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.228del (p.Phe76fs)

dbSNP: rs767384710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412251 SCV000487689 likely pathogenic Meckel syndrome, type 2 2016-08-04 criteria provided, single submitter clinical testing
Counsyl RCV000410191 SCV000487690 likely pathogenic Joubert syndrome 2 2016-08-04 criteria provided, single submitter clinical testing

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