ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3602+8C>A (rs79493678)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000082194 SCV000603853 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082194 SCV000114140 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273773 SCV000375385 likely benign I cell disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328761 SCV000375386 likely benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675284 SCV000800943 benign not provided 2017-05-01 no assertion criteria provided clinical testing
PreventionGenetics RCV000082194 SCV000314281 benign not specified criteria provided, single submitter clinical testing

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