ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1299T>C (p.His433=)

gnomAD frequency: 0.97595  dbSNP: rs540012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153486 SCV000203004 benign not specified 2018-06-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153486 SCV000712183 benign not specified 2016-05-23 criteria provided, single submitter clinical testing c.1314T>C in exon 10 of MEN1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 99.99% (66603/66608) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs540012).
Labcorp Genetics (formerly Invitae), Labcorp RCV000860148 SCV001000096 benign Multiple endocrine neoplasia, type 1 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000860148 SCV004359143 benign Multiple endocrine neoplasia, type 1 2019-03-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718069 SCV005319089 benign not provided criteria provided, single submitter not provided

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