ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2409C>T (p.Ile803=)

gnomAD frequency: 0.00006  dbSNP: rs535051804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123310 SCV000166617 likely benign Multiple endocrine neoplasia, type 2 2024-01-24 criteria provided, single submitter clinical testing
Counsyl RCV000411631 SCV000489737 likely benign Multiple endocrine neoplasia, type 2b 2015-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000409657 SCV000489738 likely benign Multiple endocrine neoplasia, type 2a 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567941 SCV000674741 likely benign Hereditary cancer-predisposing syndrome 2016-04-18 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.
Myriad Genetics, Inc. RCV000409657 SCV004018481 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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