ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)

gnomAD frequency: 0.00249  dbSNP: rs147755372
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147339 SCV000194712 likely benign not specified 2018-04-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094822 SCV000438657 likely benign PLA2G6-associated neurodegeneration 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000513451 SCV000609086 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing Criteria applied: BP4, BP7, BS2
Invitae RCV000389804 SCV000756343 benign Infantile neuroaxonal dystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000513451 SCV001771318 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27942883)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000513451 SCV001741355 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000147339 SCV001918825 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513451 SCV001972192 likely benign not provided no assertion criteria provided clinical testing

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