ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs900061092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598481 SCV000704097 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088496 SCV001009040 likely benign Familial aplasia of the vermis 2024-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276405 SCV001462668 uncertain significance Joubert syndrome 2 2020-04-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530681 SCV004723644 likely benign TMEM216-related disorder 2021-12-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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