ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2523G>T (p.Pro841=)

dbSNP: rs56195026
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163299 SCV000213827 likely benign Hereditary cancer-predisposing syndrome 2014-07-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001080805 SCV000253562 likely benign Multiple endocrine neoplasia, type 2 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679732 SCV000807030 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000679732 SCV000971087 likely benign not provided 2019-05-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22174939)
CeGaT Center for Human Genetics Tuebingen RCV000679732 SCV001147871 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing RET: BP4, BP7
Illumina Laboratory Services, Illumina RCV001104779 SCV001261666 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 RCV001104780 SCV001261667 uncertain significance 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 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 RCV001105909 SCV001262924 uncertain significance 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 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 RCV001105910 SCV001262925 uncertain significance 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 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.
Genetic Services Laboratory, University of Chicago RCV001818364 SCV002066379 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163299 SCV002529983 likely benign Hereditary cancer-predisposing syndrome 2020-09-18 criteria provided, single submitter curation

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