ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1092+6dup (rs368602234)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675639 SCV000700365 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000244679 SCV000566468 benign not specified 2015-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000401180 SCV000373026 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000401180 SCV000752189 benign Glycogen storage disease, type V 2017-10-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675639 SCV000801340 likely benign not provided 2017-04-17 no assertion criteria provided clinical testing
PreventionGenetics RCV000244679 SCV000311161 benign not specified criteria provided, single submitter clinical testing

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