ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.71-9T>C

gnomAD frequency: 0.00006  dbSNP: rs569540121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501279 SCV000593567 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111154 SCV001268672 uncertain significance Peters plus 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, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001111154 SCV002374648 benign Peters plus syndrome 2023-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979883 SCV004790463 likely benign B3GLCT-related disorder 2019-04-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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