ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.606C>T (p.His202=) (rs79860859)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000263138 SCV000373035 uncertain significance Glycogen storage disease, type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000263138 SCV001069969 benign Glycogen storage disease, type V 2020-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000263138 SCV001457730 likely benign Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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