ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) (rs201740483)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083486 SCV000166624 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163463 SCV000214014 likely benign Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence;Other strong data supporting benign classification;Subpopulation frequency in support of benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000602932 SCV000713989 likely benign not specified 2017-12-07 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.
Counsyl RCV000663277 SCV000786514 likely benign Multiple endocrine neoplasia, type 2a 2018-05-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679744 SCV000807046 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000663277 SCV001138037 likely benign Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679744 SCV001147873 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106024 SCV001263048 likely benign Pheochromocytoma 2018-05-22 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 RCV001106025 SCV001263049 benign Renal hypodysplasia/aplasia 1 2018-05-22 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001108238 SCV001265452 benign Hirschsprung disease 1 2018-05-22 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001108239 SCV001265453 benign Multiple endocrine neoplasia 2018-05-22 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761007 SCV000890922 uncertain significance Ewing sarcoma of soft tissue 2016-03-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.