ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.*6A>G

gnomAD frequency: 0.00005  dbSNP: rs541341560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732958 SCV000860960 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279276 SCV001466359 benign Joubert syndrome 2 2020-04-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535862 SCV004711663 likely benign TMEM216-related disorder 2021-12-15 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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