ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.34+18_34+21del

dbSNP: rs940443692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV001787339 SCV000790791 likely benign Joubert syndrome 2; Meckel syndrome, type 2 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV001475886 SCV001680084 likely benign Familial aplasia of the vermis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003318623 SCV004023052 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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