ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1621= (p.Thr541=)

gnomAD frequency: 0.10623  dbSNP: rs2959656
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082334 SCV000114297 benign not specified 2014-09-18 criteria provided, single submitter clinical testing
Endocrine Unit 2, University Hospital of Pisa RCV000210359 SCV000246275 uncertain significance Primary hyperparathyroidism 2015-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001084452 SCV000262397 benign Multiple endocrine neoplasia, type 1 2025-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034785 SCV000604204 benign not provided 2021-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000034785 SCV000842744 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034785 SCV000043284 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.

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