ClinVar Miner

Submissions for variant NM_020975.6(RET):c.868-6C>T

gnomAD frequency: 0.00013  dbSNP: rs367688294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246361 SCV000313732 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871257 SCV001012873 likely benign Multiple endocrine neoplasia, type 2 2024-01-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256185 SCV002527932 likely benign Hereditary cancer-predisposing syndrome 2021-02-03 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002487137 SCV002804163 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-04-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000871257 SCV004818796 likely benign Multiple endocrine neoplasia, type 2 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004791376 SCV005403620 benign Multiple endocrine neoplasia type 2A 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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