ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1395G>A (p.Lys465=)

gnomAD frequency: 0.00001  dbSNP: rs555057489
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939898 SCV001085751 likely benign Glycogen storage disease, type V 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000939898 SCV002092319 likely benign Glycogen storage disease, type V 2020-02-07 no assertion criteria provided clinical testing

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