ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1336G>C (p.Gly446Arg) (rs115423919)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162955 SCV000213443 benign Hereditary cancer-predisposing syndrome 2014-12-23 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 RCV000712293 SCV000842749 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Counsyl RCV000411174 SCV000489771 likely benign Multiple endocrine neoplasia, type 2b 2015-12-22 criteria provided, single submitter clinical testing
Counsyl RCV000409372 SCV000489772 likely benign Multiple endocrine neoplasia, type 2a 2015-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121994 SCV000232293 benign not specified 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000121994 SCV000716910 likely benign not specified 2017-10-03 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.
ITMI RCV000121994 SCV000086205 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000317413 SCV000362299 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372019 SCV000362300 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282253 SCV000362301 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337299 SCV000362302 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123294 SCV000166601 benign Multiple endocrine neoplasia, type 2 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121994 SCV000711344 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing p.Gly446Arg in exon 7 of RET: This variant is not expected to have clinical sign ificance because it has been identified in 0.8% (87/10400) of African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs115423919).
PreventionGenetics RCV000121994 SCV000313713 benign not specified criteria provided, single submitter clinical testing

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