ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1264-5C>T (rs9282835)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129654 SCV000184452 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000425429 SCV000842748 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425429 SCV000511563 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
Counsyl RCV000409020 SCV000489795 benign Multiple endocrine neoplasia, type 2b 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000410578 SCV000489796 benign Multiple endocrine neoplasia, type 2a 2016-03-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151740 SCV000331081 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364568 SCV000362291 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269631 SCV000362292 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329345 SCV000362293 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365295 SCV000362294 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000151740 SCV000920150 benign not specified 2017-10-26 criteria provided, single submitter clinical testing Variant summary: The RET c.1264-5C>T variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2867/275922 control chromosomes at a frequency of 0.0103906, which is approximately 42 times the estimated maximal expected allele frequency of a pathogenic RET variant (0.0002469), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000119158 SCV000153879 benign Multiple endocrine neoplasia, type 2 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151740 SCV000200115 benign not specified 2013-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000151740 SCV000313711 benign not specified criteria provided, single submitter clinical testing
Vantari Genetics RCV000129654 SCV000267088 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing

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