ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2088G>A (p.Ser696=)

gnomAD frequency: 0.00024  dbSNP: rs150329150
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198466 SCV000252847 benign Multiple endocrine neoplasia, type 2 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286968 SCV000362344 likely benign Multiple endocrine neoplasia 2018-04-25 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 RCV000342100 SCV000362345 likely benign Hirschsprung disease, susceptibility to, 1 2018-04-25 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 RCV000400174 SCV000362346 likely benign Pheochromocytoma 2018-04-25 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 RCV000297432 SCV000362347 likely benign Renal hypodysplasia/aplasia 1 2018-04-25 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.
Ambry Genetics RCV000572256 SCV000674742 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV001753599 SCV000718357 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28009299)
PreventionGenetics, part of Exact Sciences RCV000612709 SCV000807021 benign not specified 2017-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000612709 SCV001158583 benign not specified 2018-12-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000612709 SCV002066171 benign not specified 2020-03-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572256 SCV002529963 benign Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000612709 SCV002774045 benign not specified 2020-09-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000198466 SCV004838652 benign Multiple endocrine neoplasia, type 2 2024-02-05 criteria provided, single submitter clinical testing

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