ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) (rs540762357)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675746 SCV000232554 uncertain significance not provided 2015-02-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293609 SCV000439428 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000293609 SCV000896989 uncertain significance Metachromatic leukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675746 SCV000801463 uncertain significance not provided 2017-10-16 no assertion criteria provided clinical testing

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