ClinVar Miner

Submissions for variant NM_001953.4(TYMP):c.929-6_929-3del (rs201685922)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224802 SCV000280855 benign not provided 2015-08-19 criteria provided, single submitter clinical testing
Counsyl RCV000404575 SCV000790104 likely benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2017-03-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000200098 SCV000257781 uncertain significance not specified 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000200098 SCV000252447 benign not specified 2014-01-07 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP,MITO24,DEPLTN-MITOP panel(s).
GeneReviews RCV000404575 SCV000264564 pathogenic Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-01-14 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000404575 SCV000439327 likely benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374728 SCV000484004 likely benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293978 SCV000484005 likely benign Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000200098 SCV000308569 benign not specified 2016-02-19 criteria provided, single submitter clinical testing

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