ClinVar Miner

Submissions for variant NM_020975.6(RET):c.166C>A (p.Leu56Met) (rs145633958)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign);Other data supporting benign classification;Other strong data supporting benign classification;Subpopulation frequency in support of benign classification
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 2020-12-04 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, Partners HealthCare 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,PreventionGenetics 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 Praxis fuer Humangenetik Tuebingen RCV000034766 SCV001147859 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282663 SCV001158030 likely benign none provided 2019-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,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 Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV001108851 SCV001266135 likely benign Hirschsprung disease 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.
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 Hirschsprung disease 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
Human Genetics - Radboudumc,Radboudumc RCV000121985 SCV001952151 benign not specified no assertion criteria provided clinical testing

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