ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)

gnomAD frequency: 0.89377  dbSNP: rs2959656
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000121334 SCV000203003 benign not specified 2018-06-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121334 SCV000539614 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000860147 SCV001000095 benign Multiple endocrine neoplasia, type 1 2025-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227065 SCV002506314 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000860147 SCV004359140 benign Multiple endocrine neoplasia, type 1 2018-03-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000860147 SCV004836523 benign Multiple endocrine neoplasia, type 1 2024-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002227065 SCV005319087 benign not provided criteria provided, single submitter not provided
ITMI RCV000121334 SCV000085508 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000121334 SCV001978091 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000121334 SCV001978533 benign not specified no assertion criteria provided clinical testing

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