ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.484-25_484-4del (rs778542759)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601113 SCV000734694 benign Ataxia-oculomotor apraxia type 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728518 SCV000856102 benign not specified 2017-08-28 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676809 SCV000802618 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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