ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.*3C>G

gnomAD frequency: 0.01005  dbSNP: rs77826920
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401004 SCV000399622 uncertain significance Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117490 SCV001275682 benign Mucopolysaccharidosis, MPS-IV-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.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001117490 SCV001548001 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Allele frequency is greater than expected for disorder (BS1_strong)
GeneDx RCV000675525 SCV001766456 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001117490 SCV002044930 likely benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675525 SCV004138189 benign not provided 2024-11-01 criteria provided, single submitter clinical testing GALNS: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000675525 SCV000801216 benign not provided 2017-04-21 no assertion criteria provided clinical testing

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