ClinVar Miner

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

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Total submissions: 2
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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

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