ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2304G>C (p.Glu768Asp) (rs78014899)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015022 SCV001175806 pathogenic Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Good segregation with disease (lod 1.5-3 = 5-9 meioses)
OMIM RCV000014956 SCV000035212 pathogenic Familial medullary thyroid carcinoma 2002-06-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021842 SCV000042508 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only FMTC phenotype is more common, only one report of Pheo (PMID 15855933). Youngest with MTC: 22 yr. In vitro studies: RET activation (PMID 9242375). Additional references: PMID 7784092, 18062802, 9111992 and 15531714.
Database of Curated Mutations (DoCM) RCV000431893 SCV000505642 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439063 SCV000505643 likely pathogenic Multiple endocrine neoplasia, type 4 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421871 SCV000505644 likely pathogenic Medullary thyroid carcinoma 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432579 SCV000505645 likely pathogenic Multiple endocrine neoplasia, type 2a 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445341 SCV000505646 likely pathogenic Multiple endocrine neoplasia, type 1 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426010 SCV000505647 likely pathogenic Multiple endocrine neoplasia, type 2b 2016-05-13 no assertion criteria provided literature only

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