ClinVar Miner

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

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Total submissions: 8
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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 Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261128 SCV000374154 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318604 SCV000374155 benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
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.
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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