ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2154C>T (p.Val718=)

gnomAD frequency: 0.00003  dbSNP: rs1800311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529944 SCV000626548 likely benign Glycogen storage disease, type II 2023-07-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000529944 SCV001281475 uncertain significance Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000529944 SCV001810176 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing

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