ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser) (rs267607115)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000201677 SCV000807231 pathogenic Joubert syndrome 6 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in trans with another variant (A572T) in a 7-year-old female with a clinical diagnosis of Joubert syndrome.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000201677 SCV000784458 pathogenic Joubert syndrome 6 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000001449 SCV000784459 pathogenic COACH syndrome 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000001449 SCV000021599 pathogenic COACH syndrome 2009-02-01 no assertion criteria provided literature only
TIDEX, University of British Columbia RCV000001449 SCV000586821 pathogenic COACH syndrome criteria provided, single submitter research
UW Hindbrain Malformation Research Program,University of Washington RCV000201677 SCV000256510 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research

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