ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.670-4del (rs748005956)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234359 SCV000291300 benign Multiple endocrine neoplasia, type 1 2019-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454942 SCV000539616 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Intronic 1bp del unlikely to impact splicing; ExAC: 0.1% (13/16474) South Asian chromosomes
Ambry Genetics RCV000566396 SCV000673632 likely benign Hereditary cancer-predisposing syndrome 2019-10-15 criteria provided, single submitter clinical testing Insufficient evidence;RNA Studies;In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000234359 SCV000786105 likely benign Multiple endocrine neoplasia, type 1 2018-03-01 criteria provided, single submitter clinical testing

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