Submissions for variant NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)

dbSNP: rs3737084

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082679	SCV000114721	benign	not specified	2013-07-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313320	SCV000433812	benign	Pigmentary pallidal degeneration	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.
Athena Diagnostics	RCV000675588	SCV000843008	benign	not provided	2018-05-06	criteria provided, single submitter	clinical testing
Invitae	RCV000313320	SCV001718720	benign	Pigmentary pallidal degeneration	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675588	SCV001839678	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787900	SCV002029377	benign	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000313320	SCV002029378	benign	Pigmentary pallidal degeneration	2021-09-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675588	SCV000801280	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082679	SCV001744455	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000082679	SCV001807246	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082679	SCV001953601	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082679	SCV001967750	benign	not specified		no assertion criteria provided	clinical testing