Submissions for variant NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)

gnomAD frequency: 0.00186  dbSNP: rs185149177

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152778	SCV000202166	benign	not specified	2014-03-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000710508	SCV000527265	likely benign	not provided	2018-04-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078622	SCV000769720	likely benign	ALG9 congenital disorder of glycosylation	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710508	SCV000840744	likely benign	not provided	2017-10-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492569	SCV002795900	likely benign	ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome	2021-12-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710508	SCV004133295	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ALG9: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000710508	SCV005219253	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710508	SCV001798188	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710508	SCV001974247	likely benign	not provided		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000152778	SCV003839448	likely benign	not specified	2022-06-13	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907438	SCV004720082	likely benign	ALG9-related disorder	2020-06-01	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).