ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.435C>T (p.Ser145=) (rs61736636)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082336 SCV000114299 benign not specified 2014-07-30 criteria provided, single submitter clinical testing
Invitae RCV000712292 SCV000153866 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082336 SCV000303132 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342391 SCV000373102 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378351 SCV000373103 likely benign Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491558 SCV000579619 benign Hereditary cancer-predisposing syndrome 2015-05-22 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999732 SCV000604199 benign Multiple endocrine neoplasia, type 1 2018-07-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712292 SCV000842747 benign not provided 2017-11-01 criteria provided, single submitter clinical testing

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