ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*99del

dbSNP: rs376217145
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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 RCV000268464 SCV000370012 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323476 SCV000370013 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing

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