ClinVar Miner

Submissions for variant Multiple alleles

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics,Baylor College of Medicine RCV000655893 SCV000608345 pathogenic Autosomal recessive non-syndromic sensorineural deafness type DFNB 2017-10-26 no assertion criteria provided research Digenic inheritance
Foundation for Research in Genetics and Endocrinology,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.
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
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center RCV000239375 SCV000257477 pathogenic Congenital disorders of glycosylation type II no assertion criteria provided research
OMIM RCV000014500 SCV000034751 risk factor Coronary heart disease 7 2004-10-01 no assertion criteria provided literature only

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