ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2547C>T (p.Gly849=)

gnomAD frequency: 0.00001  dbSNP: rs770674650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205722 SCV000260354 likely benign Multiple endocrine neoplasia, type 2 2023-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454735 SCV000540168 likely benign not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, not in splice consensus; Reported in 1 Hirschprung proband; ClinVar: 1 VUS
Ambry Genetics RCV001015918 SCV001176812 likely benign Hereditary cancer-predisposing syndrome 2022-03-28 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.

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