ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) (rs6151415)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078949 SCV000110810 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078949 SCV000304460 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271273 SCV000439439 benign Metachromatic leukodystrophy 2018-03-06 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.
Athena Diagnostics Inc RCV000271273 SCV000677131 benign Metachromatic leukodystrophy 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000271273 SCV001733014 benign Metachromatic leukodystrophy 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000271273 SCV001738519 benign Metachromatic leukodystrophy 2021-06-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675751 SCV000801470 benign not provided 2017-07-25 no assertion criteria provided clinical testing
Natera, Inc. RCV001276282 SCV001462388 benign Citrullinemia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078949 SCV001742462 benign not specified no assertion criteria provided clinical testing

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