ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471761 SCV004207269 pathogenic Glycogen storage disease, type V 2023-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003471761 SCV005684129 likely pathogenic Glycogen storage disease, type V 2024-01-05 criteria provided, single submitter clinical testing

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