ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.780C>T (p.Val260=)

gnomAD frequency: 0.00002  dbSNP: rs754415422
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001277989 SCV001676579 likely benign Glycogen storage disease, type V 2024-05-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277989 SCV001464974 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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