ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2071G>A (p.Gly691Ser)

gnomAD frequency: 0.16640  dbSNP: rs1799939
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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039052 SCV000062730 benign not specified 2013-03-11 criteria provided, single submitter clinical testing Gly691Ser in exon 11 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 21% (276/1321) chromosomes from a broa d, though clinically and racially unspecified population (dbSNP rs1799939).
Eurofins Ntd Llc (ga) RCV000039052 SCV000113989 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000039052 SCV000171358 benign not specified 2016-10-31 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.
Ambry Genetics RCV000162947 SCV000213434 benign Hereditary cancer-predisposing syndrome 2014-11-19 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.
PreventionGenetics, part of Exact Sciences RCV000039052 SCV000313717 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385080 SCV000362340 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000290703 SCV000362341 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 RCV000340996 SCV000362342 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.
Illumina Laboratory Services, Illumina RCV000376859 SCV000362343 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034769 SCV000605017 benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660243 SCV000782258 uncertain significance Multiple endocrine neoplasia type 2A 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000034769 SCV000842753 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001083339 SCV001000074 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000039052 SCV001984524 benign not specified 2020-12-10 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000660243 SCV002761578 benign Multiple endocrine neoplasia type 2A 2019-08-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315508 SCV004017334 benign Multiple endocrine neoplasia type 2B 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001083339 SCV004357240 benign Multiple endocrine neoplasia, type 2 2019-03-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001083339 SCV004838649 benign Multiple endocrine neoplasia, type 2 2024-02-05 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034769 SCV000043474 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000039052 SCV000086188 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000039052 SCV001742724 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039052 SCV001955017 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039052 SCV001967190 benign not specified no assertion criteria provided clinical testing

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