Submissions for variant NM_012200.4(B3GAT3):c.213C>T (p.Pro71=)

gnomAD frequency: 0.00015  dbSNP: rs143334227

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579734	SCV001818415	likely benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072289	SCV002443820	likely benign	Larsen-like syndrome, B3GAT3 type	2024-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579734	SCV004132260	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	B3GAT3: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579734	SCV001808327	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579734	SCV001968378	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003966223	SCV004777719	likely benign	B3GAT3-related disorder	2022-02-16	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).