ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1299T>C (p.His433=) (rs540012)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153486 SCV000203004 benign not specified 2018-06-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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).
Invitae RCV000860148 SCV001000096 benign Multiple endocrine neoplasia, type 1 2019-12-31 criteria provided, single submitter clinical testing

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