ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.249G>T (p.Leu83=)

gnomAD frequency: 0.00001  dbSNP: rs386134252
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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 RCV001395035 SCV001596735 likely benign Multiple endocrine neoplasia, type 1 2022-08-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001395035 SCV005896794 benign Multiple endocrine neoplasia, type 1 2024-10-31 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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