Submissions for variant NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)

gnomAD frequency: 0.00015  dbSNP: rs199680057

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000359501	SCV000344417	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141449	SCV001301794	likely benign	Pigmentary pallidal degeneration	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001141449	SCV002426147	likely benign	Pigmentary pallidal degeneration	2024-02-01	criteria provided, single submitter	clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University	RCV001141449	SCV002553236	uncertain significance	Pigmentary pallidal degeneration	2022-03-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957511	SCV004774887	likely benign	PANK2-related disorder	2020-03-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).