ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1296A>G (p.Ala432=)

gnomAD frequency: 0.74268  dbSNP: rs1800860
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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082048 SCV000113983 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131068 SCV000185998 benign Hereditary cancer-predisposing syndrome 2014-11-18 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000082048 SCV000200116 benign not specified 2018-03-12 criteria provided, single submitter clinical testing This "variant" is a RefSeq error. G at this position is the major allele with an allele frequency of 70% in gnomAD (http://gnomad.broadinstitute.org/variant/10- 43606687-A-G).
PreventionGenetics, part of Exact Sciences RCV000082048 SCV000313712 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265973 SCV000362295 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 RCV000321087 SCV000362296 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000380264 SCV000362297 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000285939 SCV000362298 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000548337 SCV000658401 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811384 SCV001158791 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795149 SCV002033565 benign Multiple endocrine neoplasia type 2A 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795150 SCV002033566 benign Multiple endocrine neoplasia type 2B 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000321087 SCV002033567 benign Pheochromocytoma 2021-11-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000548337 SCV002761957 benign Multiple endocrine neoplasia, type 2 2019-08-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001795150 SCV004017333 benign Multiple endocrine neoplasia type 2B 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000548337 SCV004357229 benign Multiple endocrine neoplasia, type 2 2019-03-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811384 SCV005319276 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082048 SCV001740712 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000082048 SCV001932081 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082048 SCV001954706 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000082048 SCV001965139 benign not specified no assertion criteria provided clinical testing

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