ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1002C>T (p.Ser334=)

gnomAD frequency: 0.00358  dbSNP: rs147027229
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303048 SCV000330993 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305061 SCV000439434 likely benign Metachromatic leukodystrophy 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000305061 SCV001013683 benign Metachromatic leukodystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675749 SCV001944155 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675749 SCV000801468 likely benign not provided 2017-05-10 no assertion criteria provided clinical testing
Natera, Inc. RCV000305061 SCV001462381 benign Metachromatic leukodystrophy 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000303048 SCV001923700 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000303048 SCV001971989 benign not specified no assertion criteria provided clinical testing

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