ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.175A>G (p.Ile59Val)

gnomAD frequency: 0.62259  dbSNP: rs153477
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153332 SCV000202812 benign not specified 2014-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153332 SCV000304056 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376352 SCV000455365 benign Tay-Sachs disease, variant AB 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 RCV000376352 SCV001718999 benign Tay-Sachs disease, variant AB 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000376352 SCV001933848 benign Tay-Sachs disease, variant AB 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675621 SCV000801321 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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