ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) (rs786200965)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152794 SCV000202184 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761490 SCV000891606 likely pathogenic Metachromatic leukodystrophy 2017-12-30 criteria provided, single submitter curation

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