ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) (rs1052030)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036163 SCV000059815 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036163 SCV000228833 benign not specified 2014-09-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036163 SCV000303300 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353260 SCV000374153 benign Deafness, autosomal recessive 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000261128 SCV000374154 benign Deafness, autosomal dominant 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000677332 SCV000374155 benign Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
SIB Swiss Institute of Bioinformatics RCV000677332 SCV000803582 benign Usher syndrome type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036163 SCV001158875 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132571 SCV000172513 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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