Submissions for variant NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)

gnomAD frequency: 0.05955  dbSNP: rs2413502

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147281	SCV000194654	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319306	SCV000438653	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001518068	SCV001726701	benign	Infantile neuroaxonal dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001682856	SCV001898030	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000147281	SCV001922848	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147281	SCV001965071	benign	not specified		no assertion criteria provided	clinical testing