ClinVar Miner

Submissions for variant NM_020975.6(RET):c.-37G>C

gnomAD frequency: 0.00004  dbSNP: rs751005619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526991 SCV000658482 uncertain significance Multiple endocrine neoplasia, type 2 2022-02-19 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the RET gene. It does not change the encoded amino acid sequence of the RET protein. This variant is present in population databases (rs751005619, gnomAD 0.07%). This variant has been observed in individual(s) with Hirschsprung disease (PMID: 14633923). ClinVar contains an entry for this variant (Variation ID: 477374). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002225663 SCV002504180 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV005044835 SCV005674206 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-02-16 criteria provided, single submitter clinical testing

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