ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2427C>T (p.Tyr809=)

gnomAD frequency: 0.00004  dbSNP: rs577929869
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233277 SCV000290547 benign Multiple endocrine neoplasia, type 2 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573753 SCV000674745 likely benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002500810 SCV002795732 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000233277 SCV004357250 likely benign Multiple endocrine neoplasia, type 2 2022-09-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000233277 SCV004819173 likely benign Multiple endocrine neoplasia, type 2 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706682 SCV005220645 likely benign not provided criteria provided, single submitter not provided

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