ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2508C>T (p.Ser836=) (rs1800862)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712296 SCV000605018 benign not provided 2017-06-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712296 SCV000842756 benign not provided 2018-05-11 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203081 SCV000258171 benign Multiple endocrine neoplasia 2015-02-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151741 SCV000226158 benign not specified 2015-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000151741 SCV000171360 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.
Illumina Clinical Services Laboratory,Illumina RCV000327711 SCV000362356 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359214 SCV000362357 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264509 SCV000362358 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203081 SCV000362359 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463335 SCV000556205 benign Multiple endocrine neoplasia, type 2 2017-08-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151741 SCV000200118 benign not specified 2014-02-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000151741 SCV000313720 benign not specified criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000151741 SCV000042526 benign not specified 2018-05-04 no assertion criteria provided literature only Common polymorphism (1-12% allele frequency), not causative of MEN2 disease. Present in GnomAD at 4.4% (gnomad.broadinstitute.org/gene/ENSG00000165731). In vitro studies: PMID 10980580. Additional references: PMID 18976163, 16118333, 11589684 and 16091499.

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