ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2944C>T (p.Arg982Cys) (rs17158558)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082055 SCV000113994 benign not specified 2014-10-23 criteria provided, single submitter clinical testing
Invitae RCV000119132 SCV000153846 benign Multiple endocrine neoplasia, type 2 2017-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162949 SCV000213436 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000082055 SCV000234928 benign not specified 2016-09-23 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202663 SCV000258172 benign Multiple endocrine neoplasia 2015-04-17 criteria provided, single submitter clinical testing
Vantari Genetics RCV000162949 SCV000267090 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082055 SCV000269746 benign not specified 2015-12-09 criteria provided, single submitter clinical testing p.Arg982Cys in exon 18 of RET: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 4% (666/16512) of South Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs17158558).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238890 SCV000297299 benign Familial medullary thyroid carcinoma 2015-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082055 SCV000313724 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202663 SCV000362376 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354936 SCV000362377 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260187 SCV000362378 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320112 SCV000362379 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000410308 SCV000489799 benign Multiple endocrine neoplasia, type 2b 2016-04-05 criteria provided, single submitter clinical testing
Counsyl RCV000411820 SCV000489800 benign Multiple endocrine neoplasia, type 2a 2016-04-05 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000411820 SCV000782261 uncertain significance Multiple endocrine neoplasia, type 2a 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000034774 SCV000842760 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
OMIM RCV000014965 SCV000035221 risk factor Hirschsprung disease 1 1998-08-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034774 SCV000043479 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000082055 SCV000086193 not provided not specified 2013-09-19 no assertion provided reference population
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) RCV000736279 SCV000864577 uncertain significance Hirschsprung disease 2013-01-01 no assertion criteria provided research

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