ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.277G>A (p.Ala93Thr)

gnomAD frequency: 0.00003  dbSNP: rs142481170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534070 SCV000626600 likely benign Glycogen storage disease, type II 2024-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001548249 SCV001768124 uncertain significance not provided 2019-05-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000534070 SCV001810218 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001548249 SCV003816188 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing

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