ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) (rs2959656)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034785 SCV000604204 benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Invitae RCV000204881 SCV000262397 benign Multiple endocrine neoplasia, type 1 2018-01-16 criteria provided, single submitter clinical testing

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