ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2554A>G (p.Ile852Val)

dbSNP: rs561276725
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080707 SCV000290549 likely benign Multiple endocrine neoplasia, type 2 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679733 SCV000807031 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015912 SCV001176804 benign Hereditary cancer-predisposing syndrome 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316302 SCV004017365 likely benign Multiple endocrine neoplasia, type 2b 2023-07-07 criteria provided, single submitter clinical testing

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