ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2415-22del

dbSNP: rs5790245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665237 SCV001874981 benign not provided 2019-09-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260267 SCV002539238 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260269 SCV002539239 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260268 SCV002539241 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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