ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) (rs772615481)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388995 SCV000438156 uncertain significance Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294676 SCV000438157 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing

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