ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.15G>A (p.Met5Ile) (rs62267114)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513618 SCV000609115 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000704354 SCV000833299 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764515 SCV000895597 uncertain significance Adult polyglucosan body disease; Glycogen storage disease, type IV 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000509180 SCV001308921 uncertain significance Glycogen storage disease, type IV 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.
Illumina Clinical Services Laboratory,Illumina RCV001149608 SCV001310569 uncertain significance Adult polyglucosan body disease 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000513618 SCV001713293 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509180 SCV000607236 not provided Glycogen storage disease, type IV no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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