ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2136+9C>T

dbSNP: rs1331402266
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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 RCV000876638 SCV001019235 likely benign Multiple endocrine neoplasia, type 2 2024-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047139 SCV005674219 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530852 SCV004715095 likely benign RET-related disorder 2020-11-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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