ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)

gnomAD frequency: 0.00002  dbSNP: rs753533515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508673 SCV001714987 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001277992 SCV002780433 uncertain significance Glycogen storage disease, type V 2021-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277992 SCV001464977 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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