ClinVar Miner

Submissions for variant NM_020975.6(RET):c.166C>A (p.Leu56Met)

gnomAD frequency: 0.00310  dbSNP: rs145633958
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Total submissions: 29
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121985 SCV000113984 benign not specified 2014-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163266 SCV000213794 benign Hereditary cancer-predisposing syndrome 2015-01-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202649 SCV000258169 benign Multiple endocrine neoplasia 2015-06-25 criteria provided, single submitter clinical testing
Invitae RCV001082759 SCV000261742 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000034766 SCV000514406 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in a patient with short segment Hirschsprung disease and in a fetus with bilateral renal agenesis and uterine agenesis (Hofstra et al., 2000; Jeanpierre et al., 2011).; This variant is associated with the following publications: (PMID: 26332594, 24442913, 25569433, 26883533, 24055113, 30840779, 22703879, 20473317, 10790203, 24728327, 26572137, 27153395, 25637381, 22995991, 21490379, 26395553, 22648184, 30072953, 31649719)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121985 SCV000711342 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing p.Leu56Met in exon 2 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (271/66206) of European chromosom es, including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs145633958).
PreventionGenetics, part of Exact Sciences RCV000121985 SCV000807009 benign not specified 2016-10-10 criteria provided, single submitter clinical testing
Mendelics RCV000030402 SCV001138019 benign Multiple endocrine neoplasia type 2A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034766 SCV001147859 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RET: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034766 SCV001158030 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000202649 SCV001266132 benign Multiple endocrine neoplasia 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001108849 SCV001266133 likely benign Renal hypodysplasia/aplasia 1 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 Laboratory Services, Illumina RCV001108850 SCV001266134 uncertain significance Pheochromocytoma 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001108851 SCV001266135 likely benign Hirschsprung disease, susceptibility to, 1 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000034766 SCV002011461 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121985 SCV002067079 benign not specified 2020-08-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163266 SCV002529940 likely benign Hereditary cancer-predisposing syndrome 2021-05-31 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121985 SCV002550377 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034766 SCV002774043 benign not provided 2017-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001082759 SCV004357214 likely benign Multiple endocrine neoplasia, type 2 2022-06-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001082759 SCV004838625 likely benign Multiple endocrine neoplasia, type 2 2024-02-05 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034766 SCV000043467 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030402 SCV000053071 benign Multiple endocrine neoplasia type 2A 2012-03-13 no assertion criteria provided clinical testing
ITMI RCV000121985 SCV000086196 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000148768 SCV000190505 likely benign Aganglionic megacolon 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000034766 SCV001741811 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121985 SCV001807872 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000121985 SCV001952151 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000034766 SCV002036410 likely benign not provided no assertion criteria provided clinical testing

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