ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.*770A>T

gnomAD frequency: 0.00010  dbSNP: rs886057456
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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 RCV000340657 SCV000438118 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390754 SCV000438119 uncertain significance Walker-Warburg congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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