ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala)

gnomAD frequency: 0.00003  dbSNP: rs745594101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660374 SCV000782449 uncertain significance Adult polyglucosan body disease; Glycogen storage disease, type IV 2016-05-03 criteria provided, single submitter clinical testing

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