ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.-57G>A

gnomAD frequency: 0.38912  dbSNP: rs2290081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527501 SCV001738539 benign Glycogen storage disease, type IV 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527502 SCV001738540 benign Adult polyglucosan body disease 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001673114 SCV001889404 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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