ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.776-15C>T

gnomAD frequency: 0.21500  dbSNP: rs5406
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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 RCV000242540 SCV000303724 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301722 SCV000442116 benign Fanconi-Bickel syndrome 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000242540 SCV000517658 benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000301722 SCV001726760 benign Fanconi-Bickel syndrome 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226701 SCV002505498 benign Type 2 diabetes mellitus criteria provided, single submitter research SLC2A2-rs5406 plays a role in occurence of T2DM. Its associated with neonatal diabetes, glycogen accumulation in liver leading to hepatomegaly.
Mayo Clinic Laboratories, Mayo Clinic RCV000675653 SCV000801354 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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