Submissions for variant NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)

dbSNP: rs1054487

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224033	SCV000281568	likely benign	not provided	2015-05-21	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080162	SCV001115834	benign	Deficiency of alpha-mannosidase	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000224033	SCV002504389	likely benign	not provided	2021-10-19	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV001080162	SCV002798066	likely benign	Deficiency of alpha-mannosidase	2022-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224033	SCV004137899	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MAN2B1: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV001699242	SCV001923111	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224033	SCV001929288	likely benign	not provided		no assertion criteria provided	clinical testing