ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)

gnomAD frequency: 0.05937  dbSNP: rs11570679
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147338 SCV000194711 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288433 SCV000438658 benign PLA2G6-associated neurodegeneration 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.
Invitae RCV001518069 SCV001726702 benign Infantile neuroaxonal dystrophy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682857 SCV001902218 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000147338 SCV001922377 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000147338 SCV001972391 benign not specified no assertion criteria provided clinical testing

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