ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.243C>T (p.Gly81=) (rs6151410)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000262492 SCV000331612 benign not specified 2016-01-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276455 SCV000439442 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000276455 SCV000627140 benign Metachromatic leukodystrophy 2017-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000276455 SCV000677129 benign Metachromatic leukodystrophy 2017-06-29 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675753 SCV000801473 benign not provided 2017-05-16 no assertion criteria provided clinical testing

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