ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.21C>G (p.Ala7=)

gnomAD frequency: 0.00937  dbSNP: rs61743823
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000675671 SCV005229039 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001083437 SCV001116758 benign Mucopolysaccharidosis, MPS-III-D 2026-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083437 SCV000380847 benign Mucopolysaccharidosis, MPS-III-D 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.
Eurofins Ntd Llc (ga) RCV000349551 SCV000335397 benign not specified 2015-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004730919 SCV005340855 benign GNS-related disorder 2024-03-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274498 SCV001458727 benign Sanfilippo syndrome 2020-09-16 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675671 SCV000801375 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing

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