ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) (rs11203289)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128921 SCV000172790 benign Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034690 SCV000043487 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034690 SCV000610498 benign not provided 2017-04-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121999 SCV000859747 benign not specified 2018-03-04 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000755699 SCV000883132 benign Paragangliomas 4 2018-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000121999 SCV000514599 benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121999 SCV000086210 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000368190 SCV000351451 likely benign Paraganglioma and gastric stromal sarcoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275977 SCV000351452 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204871 SCV000261805 benign Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121999 SCV000540300 benign not specified 2016-06-23 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: Frequency
Mendelics RCV000013632 SCV000837740 uncertain significance Cowden syndrome 2018-07-02 criteria provided, single submitter clinical testing
OMIM RCV000013632 SCV000033879 uncertain significance Cowden syndrome 2008-08-01 no assertion criteria provided literature only

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