ClinVar Miner

Submissions for variant Multiple alleles

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000170538 SCV000223133 pathogenic Burn-McKeown syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000170540 SCV000223135 pathogenic Burn-McKeown syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000170541 SCV000223136 pathogenic Burn-McKeown syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000170542 SCV000223137 pathogenic Burn-McKeown syndrome 2014-12-02 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000170543 SCV000223138 pathogenic Burn-McKeown syndrome 2014-12-02 criteria provided, single submitter research
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV001647442 SCV001761655 pathogenic ALG1-CDG 2021-07-23 criteria provided, single submitter research This variant in ALG1 gene has been never reported , and was absent from large population studies. Additionally, an in vitro functional study performed by our group indicate that it retaines the intron 1. In summary, this variant meets ACMG criteria to be classified as pathogenic .
OMIM RCV000014500 SCV000034751 risk factor Coronary heart disease 7 2004-10-01 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186455 SCV000239812 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center RCV000239375 SCV000257477 pathogenic Congenital disorders of glycosylation type II no assertion criteria provided research
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495844 SCV000581393 likely pathogenic Deafness, autosomal recessive 63 2016-08-31 no assertion criteria provided clinical testing MYH9 gene: The mutation c.922G>A (p.V308I) in exon 9 of MYH9 gene is reported in 1000 genome (0.04%) and ExAc (0.01%) databases and it is found to be pathogenic by Mutation Taster2, SIFT, Polyphen2 and LRT. The dbSNP number of this mutation is rs577429531. LRTOMT gene: The variant c.613_614insAGCT in exon 9 of LRTOMT gene is not reported in 1000 Genome and ExAC databases and it is found to be damaging by Mutation Taster2. The dbSNP number of this mutation is rs797044907. The proband, born of a non-consanguineous marriage, presented with clinical indication of dysplastic semicircular canals. She was diagnosed with bilateral incomplete cochlear partition. Upon further investigation her father was found to be heterozygous for c.922G>A (p.V308 I) mutation in MYH9 gene and her mother was found to be heterozygous for c.613_614insAGCT (p.S207AfsTer 38) variant in LRTOMT gene. During subsequent pregnancy, the CVS sample of mother is found to be heterozygous for c.922G>A (p.V308I) variant in MYH9 gene.
Center for Statistical Genetics, Columbia University RCV000655893 SCV000608345 pathogenic Deafness, autosomal recessive 2017-10-26 no assertion criteria provided research Digenic inheritance
Centro Nacional de Biotecnologia,Consejo Superior de Investigaciones Cientificas RCV001171633 SCV000999906 affects Rheumatoid arthritis 2019-11-30 no assertion criteria provided research Using four independent cohorts of arthritic patients, we identified an inverse correlation between SOCS1 mRNA expression and disease activity. Lower baseline SOCS1 levels were associated with poorer disease control. In vitro expression assays indicated that the minor allele of rs4780355 correlated with reduced SOCS1 expression, supporting a functional relationship between this SNP and disease progression, but only when the microsatellite 3x(TTTTC) is cis-acting.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293692 SCV001482325 pathogenic Lysinuric protein intolerance 2019-05-31 no assertion criteria provided research
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293696 SCV001482331 pathogenic Three M syndrome 1 2019-05-31 no assertion criteria provided research
OMIM RCV001449564 SCV001652680 uncertain significance not provided 2021-05-21 no assertion criteria provided literature only

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