ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2029+19T>G

gnomAD frequency: 0.00052  dbSNP: rs374035760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002110468 SCV002435117 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2023-10-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260414 SCV002539212 likely benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260416 SCV002539213 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260415 SCV002539214 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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