Submissions for variant NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)

gnomAD frequency: 0.00293  dbSNP: rs36098987

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953027	SCV001099572	likely benign	Desbuquois dysplasia 1	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729754	SCV005093343	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	XYLT1: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001729754	SCV005213426	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001729755	SCV001977779	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729754	SCV001980263	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001729754	SCV002036383	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925966	SCV004740566	likely benign	XYLT1-related disorder	2019-05-23	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).