ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.-165C>T

gnomAD frequency: 0.00006  dbSNP: rs866748883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295567 SCV000452973 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352820 SCV000452974 uncertain significance Limb-Girdle Muscular Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003312995 SCV000452975 uncertain significance Myofibrillar myopathy 3 2016-06-14 criteria provided, single submitter clinical testing

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