ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1699G>A (p.Asp567Asn) (rs147219360)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081705 SCV000166608 likely benign Multiple endocrine neoplasia, type 2 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163453 SCV000214000 likely benign Hereditary cancer-predisposing syndrome 2019-04-13 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455280 SCV000540175 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only reported in proband with renal agenesis; ExAC: 0.1% (9/11538) Latino; ClinVar: 2 VUS
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727068 SCV000705348 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001104478 SCV000890955 uncertain significance Multiple endocrine neoplasia 2020-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104478 SCV001261345 benign Multiple endocrine neoplasia 2019-04-19 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001104479 SCV001261346 likely benign Hirschsprung disease 1 2019-04-19 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001107242 SCV001264382 benign Pheochromocytoma 2019-04-19 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001107243 SCV001264383 uncertain significance Renal hypodysplasia/aplasia 1 2019-04-19 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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