ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.256C>T (p.Leu86=) (rs541817643)

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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 RCV000382595 SCV000373040 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000382595 SCV000626784 likely benign Glycogen storage disease, type V 2017-11-21 criteria provided, single submitter clinical testing

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