ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3243T>C (p.Asp1081=)

gnomAD frequency: 0.00010  dbSNP: rs144192900
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123320 SCV000166627 likely benign Multiple endocrine neoplasia, type 2 2024-01-29 criteria provided, single submitter clinical testing
Counsyl RCV000410847 SCV000489931 likely benign Multiple endocrine neoplasia type 2B 2016-08-12 criteria provided, single submitter clinical testing
Counsyl RCV000412402 SCV000489932 likely benign Multiple endocrine neoplasia type 2A 2016-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570968 SCV000674762 likely benign Hereditary cancer-predisposing syndrome 2015-09-11 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.
Illumina Laboratory Services, Illumina RCV001103047 SCV001259760 uncertain significance Hirschsprung disease, susceptibility to, 1 2017-04-28 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 RCV001103048 SCV001259761 uncertain significance Renal hypodysplasia/aplasia 1 2017-04-28 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 RCV001108244 SCV001265458 benign Pheochromocytoma 2017-04-28 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 RCV001108245 SCV001265459 benign Multiple endocrine neoplasia 2017-04-28 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.
Color Diagnostics, LLC DBA Color Health RCV000123320 SCV004357258 likely benign Multiple endocrine neoplasia, type 2 2022-09-29 criteria provided, single submitter clinical testing

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