Submissions for variant NM_005908.4(MANBA):c.831A>G (p.Leu277=)

gnomAD frequency: 0.04331  dbSNP: rs17033168

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000318038	SCV000446785	benign	Beta-D-mannosidosis	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000318038	SCV000655620	benign	Beta-D-mannosidosis	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000675790	SCV001144528	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000675790	SCV001884038	benign	not provided	2019-03-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675790	SCV000801511	benign	not provided	2017-04-25	no assertion criteria provided	clinical testing