ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*3481dup

dbSNP: rs147581685
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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 RCV000351135 SCV000370128 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396499 SCV000370129 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001795923 SCV002032597 benign not provided 2021-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259831 SCV002539289 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259833 SCV002539290 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259832 SCV002539291 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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