ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.655-4del

gnomAD frequency: 0.00009  dbSNP: rs748005956
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234359 SCV000291300 benign Multiple endocrine neoplasia, type 1 2025-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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 This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000234359 SCV000786105 likely benign Multiple endocrine neoplasia, type 1 2018-03-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566396 SCV002530077 benign Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000234359 SCV004018043 likely benign Multiple endocrine neoplasia, type 1 2024-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736666 SCV004563448 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing

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