ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1596C>T (p.Gly532=)

gnomAD frequency: 0.00008  dbSNP: rs144460361
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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 RCV000466732 SCV000556197 likely benign Multiple endocrine neoplasia, type 2 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573968 SCV000674848 likely benign Hereditary cancer-predisposing syndrome 2023-08-10 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.
GeneDx RCV002225623 SCV002504392 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002475902 SCV002796191 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2021-12-13 criteria provided, single submitter clinical testing

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