ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) (rs146496725)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176426 SCV000228081 benign not specified 2015-01-12 criteria provided, single submitter clinical testing
Invitae RCV001085304 SCV000290900 benign Jeune thoracic dystrophy; Nephronophthisis 2020-11-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176426 SCV000314427 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415806 SCV000493467 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000176426 SCV000518554 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000176426 SCV000540612 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Has been reported in 5 individuals with MKS, BBS, or NPHP (Davis 2011). All were heterozygotes only, except for one individual with BBS who also had a frameshift variant in this gene. Led to partial rescue of function in zebrafish knockdown studies and mislocalized protein in photoreceptors in retinal electroporation assays. Also identified in 1/356 control chromosomes. 0.9% freq in Eur chr in ExAC.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283441 SCV000605474 likely benign none provided 2020-04-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000415806 SCV000611055 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
Mendelics RCV000986865 SCV001136010 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001135581 SCV001295370 likely benign Asphyxiating thoracic dystrophy 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001135582 SCV001295371 likely benign Nephronophthisis 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171333 SCV001328280 likely benign Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, BP6, BS1

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