ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.*96A>G (rs6151429)

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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 RCV000180167 SCV000232557 other not provided 2018-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246300 SCV000304452 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020309 SCV000439425 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000180167 SCV000511743 benign not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000020309 SCV000627134 other Metachromatic leukodystrophy 2019-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000020309 SCV001141459 benign Metachromatic leukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000003190 SCV000023348 pathogenic Arylsulfatase A pseudodeficiency 1998-08-01 no assertion criteria provided literature only
GeneReviews RCV000020309 SCV000040684 pathologic Metachromatic leukodystrophy 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000020309 SCV000853149 uncertain significance Metachromatic leukodystrophy 2017-06-07 no assertion criteria provided curation

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