ClinVar Miner

Submissions for variant NM_020975.6(RET):c.375C>A (p.Val125=) (rs1800859)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163272 SCV000213800 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000712298 SCV000842761 benign not provided 2017-10-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082057 SCV000113996 benign not specified 2012-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000082057 SCV000514407 benign not specified 2015-05-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) RCV000736271 SCV000864568 benign Hirschsprung disease 2013-01-01 no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000407158 SCV000362246 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307088 SCV000362247 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364069 SCV000362248 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267055 SCV000362249 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119231 SCV000153976 benign Multiple endocrine neoplasia, type 2 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082057 SCV000967108 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val125Val in exon 3 of RET: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.2% (102/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800859).
PreventionGenetics RCV000082057 SCV000313728 benign not specified criteria provided, single submitter clinical testing

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