ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1002C>T (p.Ser334=) (rs147027229)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000303048 SCV000330993 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305061 SCV000439434 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675749 SCV000801468 likely benign not provided 2017-05-10 no assertion criteria provided clinical testing

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