ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.35-17C>T

gnomAD frequency: 0.00450  dbSNP: rs147953784
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253857 SCV000306947 benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514311 SCV000609698 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001514461 SCV001722309 benign Familial aplasia of the vermis 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538028 SCV001755015 benign Joubert syndrome 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538029 SCV001755016 benign Meckel syndrome, type 2 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000514311 SCV001887542 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000253857 SCV001979083 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253857 SCV001980334 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001538028 SCV002091641 benign Joubert syndrome 2 2019-12-19 no assertion criteria provided clinical testing

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