ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2307G>T (p.Leu769=)

gnomAD frequency: 0.79547  dbSNP: rs1800861
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153835 SCV000203418 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153835 SCV000205268 benign not specified 2013-10-11 criteria provided, single submitter clinical testing Leu769Leu in exon 13 of RET: This variant is not expected to have clinical signi ficance because it has been identified in 23% (2018/8600) of European American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs1800861).
Labcorp Genetics (formerly Invitae), Labcorp RCV000860142 SCV001000075 benign Multiple endocrine neoplasia, type 2 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795273 SCV002033568 benign Multiple endocrine neoplasia type 2A 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795274 SCV002033569 benign Multiple endocrine neoplasia type 2B 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795272 SCV002033570 benign Pheochromocytoma 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000860142 SCV004357242 benign Multiple endocrine neoplasia, type 2 2019-03-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001727604 SCV005319280 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000153835 SCV001744320 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727604 SCV001974336 likely benign not provided no assertion criteria provided clinical testing

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