ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) (rs607969)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082337 SCV000114300 benign not specified 2014-08-20 criteria provided, single submitter clinical testing
Invitae RCV000119143 SCV000153859 benign Multiple endocrine neoplasia, type 1 2020-12-08 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000119143 SCV000212193 likely benign Multiple endocrine neoplasia, type 1 2015-03-11 criteria provided, single submitter research
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202713 SCV000258235 benign Multiple endocrine neoplasia 2015-05-05 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210794 SCV000267040 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082337 SCV000303133 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119143 SCV000373101 benign Multiple endocrine neoplasia, type 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl RCV000119143 SCV000488436 benign Multiple endocrine neoplasia, type 1 2016-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210794 SCV000579620 benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283302 SCV000604202 benign none provided 2020-08-07 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000119143 SCV000781719 uncertain significance Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106456 SCV001263523 likely benign Hyperparathyroidism 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000082337 SCV001476549 benign not specified 2020-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000034787 SCV001911032 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 20981092, 21521296, 22703879, 24997771, 21819486, 24728327, 18221402, 27153395, 30324798, 30869828)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034787 SCV000043288 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000082337 SCV000085510 not provided not specified 2013-09-19 no assertion provided reference population
GenomeConnect, ClinGen RCV000119143 SCV000986894 not provided Multiple endocrine neoplasia, type 1 no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082337 SCV001740312 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000082337 SCV001807547 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000034787 SCV001927784 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000034787 SCV001957052 likely benign not provided no assertion criteria provided clinical testing

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