ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*1762del

dbSNP: rs398015552
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335659 SCV000370068 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400689 SCV000370069 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001731580 SCV001982626 benign not provided 2021-10-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259822 SCV002539276 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259824 SCV002539277 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259823 SCV002539278 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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