ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2521-7C>T

gnomAD frequency: 0.00109  dbSNP: rs201438159
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334336 SCV000333851 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001697703 SCV000727535 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Invitae RCV000645364 SCV000767108 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259763 SCV002539248 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259765 SCV002539249 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259764 SCV002539250 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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