ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.913-8C>T

gnomAD frequency: 0.00001  dbSNP: rs373893527
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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 RCV001448716 SCV001651815 likely benign Multiple endocrine neoplasia, type 1 2024-09-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001448716 SCV004842050 likely benign Multiple endocrine neoplasia, type 1 2024-02-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001448716 SCV005403649 benign Multiple endocrine neoplasia, type 1 2024-09-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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