Submissions for variant NM_005908.4(MANBA):c.2416-10del

dbSNP: rs5860729

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454463	SCV000539584	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000454463	SCV001554518	benign	not specified	2021-03-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511546	SCV001718815	benign	Beta-D-mannosidosis	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000675781	SCV001831738	benign	not provided	2019-08-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001511546	SCV002014096	benign	Beta-D-mannosidosis	2021-09-05	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV001511546	SCV004812817	benign	Beta-D-mannosidosis	2023-05-04	criteria provided, single submitter	clinical testing	Latino/Admixed American population allele frequency is 72.75% (rs200835097, 22,987/31,314 alleles, 7,883 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1
Mayo Clinic Laboratories, Mayo Clinic	RCV000675781	SCV000801502	benign	not provided	2017-03-16	no assertion criteria provided	clinical testing