ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)

gnomAD frequency: 0.00002  dbSNP: rs769805782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001280473 SCV001806528 uncertain significance Glycogen storage disease, type V 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001280473 SCV002783823 uncertain significance Glycogen storage disease, type V 2022-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280473 SCV001467655 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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