ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2289C>T (p.Asn763=)

gnomAD frequency: 0.00001  dbSNP: rs777349208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081346 SCV000253561 likely benign Multiple endocrine neoplasia, type 2 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572176 SCV000674802 likely benign Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV000679730 SCV000807025 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Mendelics RCV000988345 SCV001138028 likely benign Multiple endocrine neoplasia type 2A 2019-05-28 criteria provided, single submitter clinical testing

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