ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.288C>T (p.Ser96=)

gnomAD frequency: 0.00158  dbSNP: rs56029513
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249997 SCV000303514 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000675973 SCV000525955 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089047 SCV001031297 benign Glycogen storage disease IXc 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001089047 SCV001278297 uncertain significance Glycogen storage disease IXc 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000675973 SCV004139146 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PHKG2: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic RCV000675973 SCV000801703 likely benign not provided 2017-12-29 no assertion criteria provided clinical testing

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