ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.861C>T (p.Pro287=) (rs778580823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000274967 SCV000337525 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000538700 SCV000626649 likely benign Glycogen storage disease, type II 2017-06-04 criteria provided, single submitter clinical testing

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