ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs) (rs786204646)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169433 SCV000220846 likely pathogenic Glycogen storage disease, type II 2014-10-28 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725812 SCV000339553 pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing

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