ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2071G>A (p.Gly691Ser) (rs1799939)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034769 SCV000605017 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162947 SCV000213434 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000034769 SCV000842753 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034769 SCV000043474 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Human Genetics, Inc RCV000660243 SCV000782258 uncertain significance Multiple endocrine neoplasia, type 2a 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039052 SCV000113989 benign not specified 2014-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000039052 SCV000171358 benign not specified 2016-10-31 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 RCV000039052 SCV000086188 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000385080 SCV000362340 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290703 SCV000362341 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340996 SCV000362342 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376859 SCV000362343 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039052 SCV000062730 benign not specified 2013-03-11 criteria provided, single submitter clinical testing Gly691Ser in exon 11 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 21% (276/1321) chromosomes from a broa d, though clinically and racially unspecified population (dbSNP rs1799939).
PreventionGenetics RCV000039052 SCV000313717 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000039052 SCV000042507 benign not specified 2018-05-04 no assertion criteria provided literature only Common polymorphism (11-33% allele frequency), not causative of MEN2 disease. Present in GnomAD at 20.6% (gnomad.broadinstitute.org/gene/ENSG00000165731). In vitro studies (PMID 18284634). Additional references: PMID 16118333, 16091499, 18976163, 19269918, 12702567 and 10022819.

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