ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.598-15C>T

gnomAD frequency: 0.21339  dbSNP: rs2854827
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179279 SCV000231504 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311665 SCV000438999 benign Alpha-N-acetylgalactosaminidase deficiency type 1 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.
Illumina Laboratory Services, Illumina RCV000368866 SCV000439000 benign Alpha-N-acetylgalactosaminidase deficiency type 2 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000311665 SCV001719030 benign Alpha-N-acetylgalactosaminidase deficiency type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675777 SCV001935477 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000368866 SCV002015986 benign Alpha-N-acetylgalactosaminidase deficiency type 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000311665 SCV002015987 benign Alpha-N-acetylgalactosaminidase deficiency type 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675777 SCV005274119 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675777 SCV000801498 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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