Submissions for variant NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)

gnomAD frequency: 0.00725  dbSNP: rs138292988

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454575	SCV000538287	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF 1.2%. Limited evidence for gene-disease association.
CeGaT Center for Human Genetics Tuebingen	RCV002262754	SCV002544214	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	AP1S3: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000148042	SCV002796576	likely benign	Psoriasis 15, pustular, susceptibility to	2022-04-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002262754	SCV005258947	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000148042	SCV000195548	risk factor	Psoriasis 15, pustular, susceptibility to	2014-05-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003927448	SCV004742108	likely benign	AP1S3-related disorder	2020-11-02	no assertion criteria provided	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).