ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) (rs752362727)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201784 SCV000256517 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414925 SCV000493010 likely pathogenic Joubert syndrome; Oligohydramnios; Renal cyst 2014-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623940 SCV000741568 likely pathogenic Inborn genetic diseases 2016-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627003 SCV000747706 likely pathogenic Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763609 SCV000894455 pathogenic Joubert syndrome with hepatic defect; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 2018-10-31 criteria provided, single submitter clinical testing

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