ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.*103C>T

gnomAD frequency: 0.00005  dbSNP: rs1032152255
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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 RCV001123482 SCV001282323 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 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). 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.
Fulgent Genetics, Fulgent Genetics RCV001123482 SCV002786683 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-03-22 criteria provided, single submitter clinical testing

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