ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1119C>T (p.Phe373=)

gnomAD frequency: 0.00009  dbSNP: rs151022264
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254548 SCV000309231 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000884222 SCV001027582 likely benign Glycogen storage disease, type VI 2020-12-02 criteria provided, single submitter clinical testing

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