ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)

dbSNP: rs2039279293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001128432 SCV001287880 uncertain significance Glycogen storage disease, type II 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity RCV003490082 SCV004234860 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing

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