ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.654+9C>T

gnomAD frequency: 0.00002  dbSNP: rs202134234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461750 SCV000554188 likely benign Multiple endocrine neoplasia, type 1 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912815 SCV004735430 likely benign MEN1-related disorder 2020-06-01 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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