ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2236-13_2236-10del

dbSNP: rs72105710
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082845 SCV000114897 benign not specified 2013-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082845 SCV000317288 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001650937 SCV001867775 benign not provided 2019-08-18 criteria provided, single submitter clinical testing
Invitae RCV002055234 SCV002329230 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259568 SCV002539225 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259570 SCV002539226 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259569 SCV002539227 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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