ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1754+104C>G

gnomAD frequency: 0.04194  dbSNP: rs2304839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527136 SCV001738041 benign Glycogen storage disease, type II 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001655793 SCV001869250 benign not provided 2020-04-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nucleotide substitution has no predicted effect on splicing and is not conserved across species
Breakthrough Genomics, Breakthrough Genomics RCV001655793 SCV005248750 benign not provided criteria provided, single submitter not provided

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