Submissions for variant NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup)

dbSNP: rs756417166

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001619529	SCV001843548	benign	not provided	2021-04-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821934	SCV002067467	likely benign	not specified	2020-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002425016	SCV002741108	likely benign	Inborn genetic diseases	2021-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics	RCV002501978	SCV002809188	likely benign	Schuurs-Hoeijmakers syndrome	2022-03-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003931250	SCV004745494	likely benign	PACS1-related disorder	2023-09-15	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).