ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.459C>T (p.His153=) (rs6151412)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078946 SCV000110807 benign not specified 2013-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078946 SCV000304458 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325800 SCV000439440 benign Metachromatic leukodystrophy 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 RCV000325800 SCV000627141 benign Metachromatic leukodystrophy 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000325800 SCV000677130 benign Metachromatic leukodystrophy 2017-06-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675752 SCV000801472 benign not provided 2017-04-18 no assertion criteria provided clinical testing
Natera, Inc. RCV001276283 SCV001462392 benign Citrullinemia 2020-09-16 no assertion criteria provided clinical testing

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