ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)

dbSNP: rs900061092
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869321 SCV001010738 likely benign Familial aplasia of the vermis 2023-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276404 SCV001462667 uncertain significance Joubert syndrome 2 2020-02-13 no assertion criteria provided clinical testing

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