ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.-102C>T

gnomAD frequency: 0.12619  dbSNP: rs78982329
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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 RCV001527503 SCV001738541 likely benign Glycogen storage disease, type IV 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527504 SCV001738542 likely benign Adult polyglucosan body disease 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001647356 SCV001855905 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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