ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3243T>C (p.Asp1081=) (rs144192900)

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Total submissions: 8
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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 2019-12-31 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 Other data supporting benign classification;Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001103047 SCV001259760 uncertain significance Hirschsprung disease 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 Clinical Services Laboratory,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 Clinical Services Laboratory,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 Clinical Services Laboratory,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.

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