ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*3251_*3253del

dbSNP: rs548308698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377504 SCV000370120 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266692 SCV000370121 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing

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