ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.364-8del

dbSNP: rs146983312
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082851 SCV000114903 benign not specified 2013-03-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000082851 SCV000268788 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082851 SCV000317296 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402200 SCV000369963 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304852 SCV000369964 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001594834 SCV001829963 benign not provided 2016-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23606453)
Invitae RCV002055236 SCV002461334 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259574 SCV002539182 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259576 SCV002539183 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259575 SCV002539184 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000082851 SCV001925773 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082851 SCV001962717 benign not specified no assertion criteria provided clinical testing

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