ClinVar Miner

Submissions for variant NM_020975.6(RET):c.867+48A>G

gnomAD frequency: 0.37996  dbSNP: rs2435352
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250629 SCV000313730 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000662666 SCV000785364 benign Multiple endocrine neoplasia type 2A 2017-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520524 SCV001729633 benign Multiple endocrine neoplasia, type 2 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000662666 SCV002033562 benign Multiple endocrine neoplasia type 2A 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795464 SCV002033563 benign Multiple endocrine neoplasia type 2B 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795463 SCV002033564 benign Pheochromocytoma 2021-11-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000662666 SCV002761592 benign Multiple endocrine neoplasia type 2A 2019-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718149 SCV005317094 benign not provided criteria provided, single submitter not provided

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