ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1905G>A (p.Pro635=)

gnomAD frequency: 0.00004  dbSNP: rs759582306
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 RCV001489353 SCV001693895 likely benign Glycogen storage disease, type V 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001489353 SCV005684099 uncertain significance Glycogen storage disease, type V 2023-12-27 criteria provided, single submitter clinical testing

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