ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3187+47T>C

gnomAD frequency: 0.84041  dbSNP: rs2075912
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151742 SCV000200120 benign not specified 2013-06-11 criteria provided, single submitter clinical testing This is the major allele (http://gnomad.broadinstitute.org/variant/10-43622217-T -C).
Labcorp Genetics (formerly Invitae), Labcorp RCV001520525 SCV001729634 benign Multiple endocrine neoplasia, type 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795262 SCV002033571 benign Multiple endocrine neoplasia type 2A 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795263 SCV002033574 benign Multiple endocrine neoplasia type 2B 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795261 SCV002033575 benign Pheochromocytoma 2021-11-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV001520525 SCV002761349 benign Multiple endocrine neoplasia, type 2 2019-08-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001795263 SCV004017337 benign Multiple endocrine neoplasia type 2B 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718060 SCV005319285 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004739477 SCV000313726 benign RET-related disorder 2022-01-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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