Submissions for variant NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)

gnomAD frequency: 0.00060  dbSNP: rs61736585

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193039	SCV000248418	uncertain significance	not specified	2014-09-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000954027	SCV001938038	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057007	SCV002490575	benign	Schuurs-Hoeijmakers syndrome	2022-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426927	SCV002729176	benign	Inborn genetic diseases	2018-11-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000954027	SCV004136959	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PACS1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003977520	SCV004793025	likely benign	PACS1-related disorder	2024-01-23	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).