ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2523G>A (p.Pro841=)

dbSNP: rs56195026
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197424 SCV000252849 benign Multiple endocrine neoplasia, type 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561411 SCV000674869 likely benign Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Counsyl RCV000663049 SCV000786099 likely benign Multiple endocrine neoplasia, type 2a 2018-02-21 criteria provided, single submitter clinical testing
GeneDx RCV002225268 SCV002504182 likely benign not provided 2020-05-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Sema4, Sema4 RCV000561411 SCV002529982 likely benign Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000663049 SCV004018480 benign Multiple endocrine neoplasia, type 2a 2023-04-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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