ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712297 SCV000605019 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162948 SCV000213435 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712297 SCV000842758 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039053 SCV000113992 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280812 SCV000362364 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349734 SCV000362365 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398445 SCV000362366 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296421 SCV000362367 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
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).
PreventionGenetics RCV000039053 SCV000313723 benign not specified 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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