ClinVar Miner

Submissions for variant NM_001103146.3(GIGYF2):c.3684+15G>A

gnomAD frequency: 0.69433  dbSNP: rs6437074
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000602563 SCV000744186 benign Parkinson disease 11, autosomal dominant, susceptibility to 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001675938 SCV001895381 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675938 SCV005246067 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602563 SCV000734179 benign Parkinson disease 11, autosomal dominant, susceptibility to no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000602563 SCV000745616 benign Parkinson disease 11, autosomal dominant, susceptibility to 2016-03-21 no assertion criteria provided clinical testing

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