ClinVar Miner

Submissions for variant NM_000235.3(LIPA):c.1113A>G (p.Glu371=) (rs116827211)

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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 RCV000173660 SCV000224795 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369048 SCV000365972 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369048 SCV000365973 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675913 SCV000801640 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing

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