ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2712C>G (p.Ser904=) (rs1800863)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039053 SCV000062731 benign not specified 2013-03-11 criteria provided, single submitter clinical testing Ser904Ser in exon 15 of RET: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 19% (1604/8598) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800863).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039053 SCV000113992 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162948 SCV000213435 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039053 SCV000313723 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280812 SCV000362364 benign Renal hypodysplasia/aplasia 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000349734 SCV000362365 benign Multiple endocrine neoplasia 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000398445 SCV000362366 benign Pheochromocytoma 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000296421 SCV000362367 benign Hirschsprung disease 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039053 SCV000605019 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712297 SCV000842758 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001083340 SCV001000076 benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000039053 SCV000042545 benign not specified 2018-05-04 no assertion criteria provided literature only Common polymorphism (11-27% allele frequency), not causative of MEN2 disease. Present in GnomAD at 20.7% (gnomad.broadinstitute.org/gene/ENSG00000165731). Additional references: PMID 16118333, 16091499, 12702567, 18976163 and 15531548.

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