ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2285-4T>G

gnomAD frequency: 0.00003  dbSNP: rs376601566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663194 SCV000786369 likely benign Multiple endocrine neoplasia type 2A 2018-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456357 SCV001660135 likely benign Multiple endocrine neoplasia, type 2 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442386 SCV002732276 benign Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. RCV000663194 SCV004018062 likely benign Multiple endocrine neoplasia type 2A 2024-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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