Submissions for variant NM_000199.5(SGSH):c.1159G>A (p.Val387Met)

dbSNP: rs62620232

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078351	SCV000110197	benign	not specified	2013-10-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078351	SCV000302951	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000078351	SCV000729986	benign	not specified	2017-11-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000676149	SCV001135113	benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001123039	SCV001281836	benign	Mucopolysaccharidosis, MPS-III-A	2018-01-13	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	RCV001123039	SCV001724341	benign	Mucopolysaccharidosis, MPS-III-A	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001123039	SCV002045513	benign	Mucopolysaccharidosis, MPS-III-A	2021-11-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000078351	SCV002050866	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676149	SCV004010578	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SGSH: PM5, BP4, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676149	SCV000801896	benign	not provided	2017-09-27	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000676149	SCV001798531	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000676149	SCV001923371	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001123039	SCV002095119	likely benign	Mucopolysaccharidosis, MPS-III-A	2019-11-12	no assertion criteria provided	clinical testing