ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.-30G>A

gnomAD frequency: 0.00873  dbSNP: rs3027584
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202987 SCV000257638 benign Fabry disease 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000202987 SCV000283688 benign Fabry disease 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000202987 SCV000481410 benign Fabry disease 2018-03-06 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 RCV001711355 SCV001942743 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18979223, 9323559, 7672123, 25772321)
Fulgent Genetics, Fulgent Genetics RCV000202987 SCV002802579 likely benign Fabry disease 2022-04-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000202987 SCV001458766 benign Fabry disease 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701796 SCV001930576 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701796 SCV001965150 benign not specified no assertion criteria provided clinical testing

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