ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1269C>T (p.Asp423=) (rs2071313)

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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 RCV000082332 SCV000114295 benign not specified 2018-06-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082332 SCV000303131 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261309 SCV000373095 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318798 SCV000373096 likely benign Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491125 SCV000579618 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755568 SCV000604198 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000535375 SCV000628032 benign Multiple endocrine neoplasia, type 1 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082332 SCV000711427 benign not specified 2016-12-15 criteria provided, single submitter clinical testing p.Asp423Asp in exon 10 of MEN1: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 42% (53295/126568) of European chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs2071313).

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