ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1438G>A (p.Glu480Lys)

gnomAD frequency: 0.00004  dbSNP: rs537874538
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409013 SCV000489735 uncertain significance Multiple endocrine neoplasia type 2B 2015-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000410596 SCV000489736 uncertain significance Multiple endocrine neoplasia type 2A 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461515 SCV000556199 likely benign Multiple endocrine neoplasia, type 2 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570658 SCV000674799 likely benign Hereditary cancer-predisposing syndrome 2018-12-05 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.
Mendelics RCV000410596 SCV001138024 uncertain significance Multiple endocrine neoplasia type 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001650985 SCV001871024 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31742715, 18280283, 24728327, 12628594, 22174939, 11436122, 26152202)
Sema4, Sema4 RCV000570658 SCV002529929 likely benign Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter curation
ITMI RCV000121996 SCV000086207 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000758696 SCV000886468 likely pathogenic Hirschsprung disease, susceptibility to, 1 2019-02-22 flagged submission research

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