ClinVar Miner

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

dbSNP: rs778542759
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728518 SCV000856102 benign not specified 2017-08-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000601113 SCV001156851 benign Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000676809 SCV002353458 benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601113 SCV000734694 benign Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676809 SCV000802618 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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