ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1188G>A (p.Ser396=)

gnomAD frequency: 0.00002  dbSNP: rs758510657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199148 SCV000255043 likely benign Multiple endocrine neoplasia, type 2 2023-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573373 SCV000674748 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 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 RCV000663114 SCV000786243 likely benign Multiple endocrine neoplasia, type 2a 2018-03-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417723 SCV004127592 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing RET: BP4, BP7

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